2969 lines
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2969 lines
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<h1 id="dbvar-variant-summary">dbVar Variant Summary</h1>
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<p>Here you will find a summary of dbVar variant types and links to more details in the Study and Variant Pages.
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Refer to <a href="/dbvar/content/overview">dbVar Overview</a> for an Overview of dbVar and description of all the types and pages, </p>
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<p><strong>Last updated: </strong>Monday, September 18, 2023.</p>
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<p><strong>Please note:</strong> You can link to counts for specific studies in the sections following "All Studies", for example:</p>
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<p><ul>
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<li><a href="#nstd102">Clinical Structural Variants (nstd102)</a>.</li>
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<li><a href="#nstd186">NCBI Curated Common Structural Variants (nstd186)</a>.</li>
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</ul>
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<h2 id="all">All Studies</h2>
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<table><tbody>
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<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
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<tr><td>complex chromosomal rearrangement</td><td>14507</td><td>copy number gain</td><td>32</td><td><a href="/dbvar/variants/nssv17976009">nssv17976009</a></td><td><a href="/dbvar?term=%22copy number gain%22%5Bvariant_type%5D">"copy number gain"[variant_type]</a></td></tr>
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<tr><td></td><td></td><td>copy number loss</td><td>74</td><td><a href="/dbvar/variants/nssv17976033">nssv17976033</a></td><td><a href="/dbvar?term=%22copy number loss%22%5Bvariant_type%5D">"copy number loss"[variant_type]</a></td></tr>
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<tr><td></td><td></td><td>deletion</td><td>1799</td><td><a href="/dbvar/variants/essv16645733">essv16645733</a></td><td><a href="/dbvar?term=%22deletion%22%5Bvariant_type%5D">"deletion"[variant_type]</a></td></tr>
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<tr><td></td><td></td><td>interchromosomal translocation</td><td>12603</td><td><a href="/dbvar/variants/nssv18792541">nssv18792541</a></td><td><a href="/dbvar?term=%22interchromosomal translocation%22%5Bvariant_type%5D">"interchromosomal translocation"[variant_type]</a></td></tr>
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<tr><td></td><td></td><td>intrachromosomal translocation</td><td>2459</td><td><a href="/dbvar/variants/nssv18792540">nssv18792540</a></td><td><a href="/dbvar?term=%22intrachromosomal translocation%22%5Bvariant_type%5D">"intrachromosomal translocation"[variant_type]</a></td></tr>
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<tr><td></td><td></td><td>inversion</td><td>175</td><td><a href="/dbvar/variants/nssv17976050">nssv17976050</a></td><td><a href="/dbvar?term=%22inversion%22%5Bvariant_type%5D">"inversion"[variant_type]</a></td></tr>
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<tr><td>complex substitution</td><td>19729</td><td>complex substitution</td><td>62325</td><td><a href="/dbvar/variants/nssv624375">nssv624375</a></td><td><a href="/dbvar?term=%22complex substitution%22%5Bvariant_type%5D">"complex substitution"[variant_type]</a></td></tr>
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<tr><td></td><td></td><td>deletion</td><td>10129</td><td><a href="/dbvar/variants/nssv1671983">nssv1671983</a></td><td><a href="/dbvar?term=%22deletion%22%5Bvariant_type%5D">"deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>6054</td><td><a href="/dbvar/variants/essv5161201">essv5161201</a></td><td><a href="/dbvar?term=%22duplication%22%5Bvariant_type%5D">"duplication"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>interchromosomal translocation</td><td>2</td><td><a href="/dbvar/variants/essv16639675">essv16639675</a></td><td><a href="/dbvar?term=%22interchromosomal translocation%22%5Bvariant_type%5D">"interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>inversion</td><td>8</td><td><a href="/dbvar/variants/nssv624360">nssv624360</a></td><td><a href="/dbvar?term=%22inversion%22%5Bvariant_type%5D">"inversion"[variant_type]</a></td></tr>
|
|
<tr><td>copy number variation</td><td>4449478</td><td>alu deletion</td><td>2937</td><td><a href="/dbvar/variants/nssv14063478">nssv14063478</a></td><td><a href="/dbvar?term=%22alu deletion%22%5Bvariant_type%5D">"alu deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>complex substitution</td><td>191</td><td><a href="/dbvar/variants/essv27860">essv27860</a></td><td><a href="/dbvar?term=%22complex substitution%22%5Bvariant_type%5D">"complex substitution"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number gain</td><td>1337445</td><td><a href="/dbvar/variants/nssv999467">nssv999467</a></td><td><a href="/dbvar?term=%22copy number gain%22%5Bvariant_type%5D">"copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>2554794</td><td><a href="/dbvar/variants/nssv999999">nssv999999</a></td><td><a href="/dbvar?term=%22copy number loss%22%5Bvariant_type%5D">"copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number variation</td><td>1346713</td><td><a href="/dbvar/variants/nssv8641364">nssv8641364</a></td><td><a href="/dbvar?term=%22copy number variation%22%5Bvariant_type%5D">"copy number variation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy-neutral loss of heterozygosity</td><td>8</td><td><a href="/dbvar/variants/nssv459409">nssv459409</a></td><td><a href="/dbvar?term=%22copy-neutral loss of heterozygosity%22%5Bvariant_type%5D">"copy-neutral loss of heterozygosity"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>15174913</td><td><a href="/dbvar/variants/nssv99999">nssv99999</a></td><td><a href="/dbvar?term=%22deletion%22%5Bvariant_type%5D">"deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>2308584</td><td><a href="/dbvar/variants/nssv8640032">nssv8640032</a></td><td><a href="/dbvar?term=%22duplication%22%5Bvariant_type%5D">"duplication"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>4</td><td><a href="/dbvar/variants/essv16638008">essv16638008</a></td><td><a href="/dbvar?term=%22intrachromosomal translocation%22%5Bvariant_type%5D">"intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 deletion</td><td>205</td><td><a href="/dbvar/variants/nssv14063405">nssv14063405</a></td><td><a href="/dbvar?term=%22line1 deletion%22%5Bvariant_type%5D">"line1 deletion"[variant_type]</a></td></tr>
|
|
<tr><td>copy-neutral loss of heterozygosity</td><td>26</td><td>copy-neutral loss of heterozygosity</td><td>26</td><td><a href="/dbvar/variants/nssv13638310">nssv13638310</a></td><td><a href="/dbvar?term=%22copy-neutral loss of heterozygosity%22%5Bvariant_type%5D">"copy-neutral loss of heterozygosity"[variant_type]</a></td></tr>
|
|
<tr><td>delins</td><td>3643</td><td>delins</td><td>1104852</td><td><a href="/dbvar/variants/nssv8639995">nssv8639995</a></td><td><a href="/dbvar?term=%22delins%22%5Bvariant_type%5D">"delins"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>1614542</td><td>insertion</td><td>1887584</td><td><a href="/dbvar/variants/nssv99998">nssv99998</a></td><td><a href="/dbvar?term=%22insertion%22%5Bvariant_type%5D">"insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>117981</td><td>deletion</td><td>1</td><td><a href="/dbvar/variants/essv16581090">essv16581090</a></td><td><a href="/dbvar?term=%22deletion%22%5Bvariant_type%5D">"deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>interchromosomal translocation</td><td>5</td><td><a href="/dbvar/variants/essv16640986">essv16640986</a></td><td><a href="/dbvar?term=%22interchromosomal translocation%22%5Bvariant_type%5D">"interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>5</td><td><a href="/dbvar/variants/essv16643495">essv16643495</a></td><td><a href="/dbvar?term=%22intrachromosomal translocation%22%5Bvariant_type%5D">"intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>inversion</td><td>226520</td><td><a href="/dbvar/variants/nssv9954">nssv9954</a></td><td><a href="/dbvar?term=%22inversion%22%5Bvariant_type%5D">"inversion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element deletion</td><td>29168</td><td>alu deletion</td><td>1744523</td><td><a href="/dbvar/variants/nssv16888762">nssv16888762</a></td><td><a href="/dbvar?term=%22alu deletion%22%5Bvariant_type%5D">"alu deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>herv deletion</td><td>745</td><td><a href="/dbvar/variants/nssv16193961">nssv16193961</a></td><td><a href="/dbvar?term=%22herv deletion%22%5Bvariant_type%5D">"herv deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 deletion</td><td>90550</td><td><a href="/dbvar/variants/nssv16888760">nssv16888760</a></td><td><a href="/dbvar?term=%22line1 deletion%22%5Bvariant_type%5D">"line1 deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>mobile element deletion</td><td>3187</td><td><a href="/dbvar/variants/nssv17968248">nssv17968248</a></td><td><a href="/dbvar?term=%22mobile element deletion%22%5Bvariant_type%5D">"mobile element deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva deletion</td><td>17415</td><td><a href="/dbvar/variants/nssv16888721">nssv16888721</a></td><td><a href="/dbvar?term=%22sva deletion%22%5Bvariant_type%5D">"sva deletion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element insertion</td><td>444116</td><td>alu insertion</td><td>4821029</td><td><a href="/dbvar/variants/nssv8635347">nssv8635347</a></td><td><a href="/dbvar?term=%22alu insertion%22%5Bvariant_type%5D">"alu insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>herv insertion</td><td>604</td><td><a href="/dbvar/variants/nssv17233192">nssv17233192</a></td><td><a href="/dbvar?term=%22herv insertion%22%5Bvariant_type%5D">"herv insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 insertion</td><td>690062</td><td><a href="/dbvar/variants/nssv17968250">nssv17968250</a></td><td><a href="/dbvar?term=%22line1 insertion%22%5Bvariant_type%5D">"line1 insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>mobile element insertion</td><td>331400</td><td><a href="/dbvar/variants/nssv3394906">nssv3394906</a></td><td><a href="/dbvar?term=%22mobile element insertion%22%5Bvariant_type%5D">"mobile element insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva insertion</td><td>281019</td><td><a href="/dbvar/variants/nssv17968334">nssv17968334</a></td><td><a href="/dbvar?term=%22sva insertion%22%5Bvariant_type%5D">"sva insertion"[variant_type]</a></td></tr>
|
|
<tr><td>novel sequence insertion</td><td>13630</td><td>novel sequence insertion</td><td>13683</td><td><a href="/dbvar/variants/nssv3020550">nssv3020550</a></td><td><a href="/dbvar?term=%22novel sequence insertion%22%5Bvariant_type%5D">"novel sequence insertion"[variant_type]</a></td></tr>
|
|
<tr><td>sequence alteration</td><td>22948</td><td>sequence alteration</td><td>17964</td><td><a href="/dbvar/variants/nssv624286">nssv624286</a></td><td><a href="/dbvar?term=%22sequence alteration%22%5Bvariant_type%5D">"sequence alteration"[variant_type]</a></td></tr>
|
|
<tr><td>short tandem repeat</td><td>1328521</td><td>short tandem repeat</td><td>4394628</td><td><a href="/dbvar/variants/nssv9999999">nssv9999999</a></td><td><a href="/dbvar?term=%22short tandem repeat%22%5Bvariant_type%5D">"short tandem repeat"[variant_type]</a></td></tr>
|
|
<tr><td>tandem duplication</td><td>19299</td><td>interchromosomal translocation</td><td>21</td><td><a href="/dbvar/variants/essv16645629">essv16645629</a></td><td><a href="/dbvar?term=%22interchromosomal translocation%22%5Bvariant_type%5D">"interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>9</td><td><a href="/dbvar/variants/essv16641459">essv16641459</a></td><td><a href="/dbvar?term=%22intrachromosomal translocation%22%5Bvariant_type%5D">"intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>tandem duplication</td><td>28869</td><td><a href="/dbvar/variants/nssv3994060">nssv3994060</a></td><td><a href="/dbvar?term=%22tandem duplication%22%5Bvariant_type%5D">"tandem duplication"[variant_type]</a></td></tr>
|
|
<tr><td>translocation</td><td>62586</td><td>interchromosomal translocation</td><td>8109</td><td><a href="/dbvar/variants/nssv4025986">nssv4025986</a></td><td><a href="/dbvar?term=%22interchromosomal translocation%22%5Bvariant_type%5D">"interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>54515</td><td><a href="/dbvar/variants/nssv4025988">nssv4025988</a></td><td><a href="/dbvar?term=%22intrachromosomal translocation%22%5Bvariant_type%5D">"intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>8164049</td><td></td><td>38361835</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd1">nstd1</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd1">nstd1 (Tuzun et al. 2005)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>102</td><td>deletion</td><td>102</td><td><a href="/dbvar/variants/nssv96">nssv96</a></td><td><a href="/dbvar?term=%22nstd1%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd1"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>139</td><td>insertion</td><td>139</td><td><a href="/dbvar/variants/nssv99">nssv99</a></td><td><a href="/dbvar?term=%22nstd1%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd1"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>56</td><td>inversion</td><td>56</td><td><a href="/dbvar/variants/nssv98">nssv98</a></td><td><a href="/dbvar?term=%22nstd1%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd1"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>297</td><td></td><td>297</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd2">nstd2</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd2">nstd2 (Kidd et al. 2008)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>2777</td><td>deletion</td><td>3992</td><td><a href="/dbvar/variants/nssv9995">nssv9995</a></td><td><a href="/dbvar?term=%22nstd2%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd2"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>4407</td><td>insertion</td><td>5812</td><td><a href="/dbvar/variants/nssv9999">nssv9999</a></td><td><a href="/dbvar?term=%22nstd2%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd2"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>274</td><td>inversion</td><td>1146</td><td><a href="/dbvar/variants/nssv9954">nssv9954</a></td><td><a href="/dbvar?term=%22nstd2%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd2"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>7458</td><td></td><td>10950</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd4">nstd4</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd4">nstd4 (Perry et al. 2008)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>2949</td><td>copy number gain</td><td>9147</td><td><a href="/dbvar/variants/nssv29278">nssv29278</a></td><td><a href="/dbvar?term=%22nstd4%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd4"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>8670</td><td><a href="/dbvar/variants/nssv29270">nssv29270</a></td><td><a href="/dbvar?term=%22nstd4%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd4"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>2949</td><td></td><td>17817</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd6">nstd6</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd6">nstd6 (Mills et al. 2006)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>216212</td><td>deletion</td><td>216212</td><td><a href="/dbvar/variants/nssv99999">nssv99999</a></td><td><a href="/dbvar?term=%22nstd6%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd6"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>199222</td><td>insertion</td><td>199222</td><td><a href="/dbvar/variants/nssv99998">nssv99998</a></td><td><a href="/dbvar?term=%22nstd6%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd6"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>415434</td><td></td><td>415434</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd8">nstd8</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd8">nstd8 (Perry et al. 2008)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>791</td><td>copy number gain</td><td>2597</td><td><a href="/dbvar/variants/nssv454630">nssv454630</a></td><td><a href="/dbvar?term=%22nstd8%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd8"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>1904</td><td><a href="/dbvar/variants/nssv454593">nssv454593</a></td><td><a href="/dbvar?term=%22nstd8%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd8"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>791</td><td></td><td>4501</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd11">nstd11</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd11">nstd11 (Walter et al. 2009)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>181</td><td>copy number gain</td><td>90</td><td><a href="/dbvar/variants/nssv459496">nssv459496</a></td><td><a href="/dbvar?term=%22nstd11%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd11"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>113</td><td><a href="/dbvar/variants/nssv459497">nssv459497</a></td><td><a href="/dbvar?term=%22nstd11%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd11"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy-neutral loss of heterozygosity</td><td>8</td><td><a href="/dbvar/variants/nssv459409">nssv459409</a></td><td><a href="/dbvar?term=%22nstd11%22%5Bstudy%5D+AND+%22copy-neutral loss of heterozygosity%22%5Bvariant_type%5D">"nstd11"[study] AND "copy-neutral loss of heterozygosity"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>181</td><td></td><td>211</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd12">nstd12</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd12">nstd12 (Marshall et al. 2008)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex substitution</td><td>2</td><td>complex substitution</td><td>2</td><td><a href="/dbvar/variants/nssv563391">nssv563391</a></td><td><a href="/dbvar?term=%22nstd12%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"nstd12"[study] AND "complex substitution"[variant_type]</a></td></tr>
|
|
<tr><td>copy number variation</td><td>2288</td><td>copy number gain</td><td>1958</td><td><a href="/dbvar/variants/nssv566031">nssv566031</a></td><td><a href="/dbvar?term=%22nstd12%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd12"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>1436</td><td><a href="/dbvar/variants/nssv566018">nssv566018</a></td><td><a href="/dbvar?term=%22nstd12%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd12"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>2290</td><td></td><td>3396</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd14">nstd14</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd14">nstd14 (Cooper et al. 2008)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>368</td><td>copy number gain</td><td>110</td><td><a href="/dbvar/variants/nssv463344">nssv463344</a></td><td><a href="/dbvar?term=%22nstd14%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd14"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>258</td><td><a href="/dbvar/variants/nssv463413">nssv463413</a></td><td><a href="/dbvar?term=%22nstd14%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd14"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>368</td><td></td><td>368</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd16">nstd16</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd16">nstd16 (Korbel et al. 2007)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>847</td><td>deletion</td><td>847</td><td><a href="/dbvar/variants/nssv466804">nssv466804</a></td><td><a href="/dbvar?term=%22nstd16%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd16"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>321</td><td>insertion</td><td>321</td><td><a href="/dbvar/variants/nssv466803">nssv466803</a></td><td><a href="/dbvar?term=%22nstd16%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd16"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>122</td><td>inversion</td><td>122</td><td><a href="/dbvar/variants/nssv466750">nssv466750</a></td><td><a href="/dbvar?term=%22nstd16%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd16"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1290</td><td></td><td>1290</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd17">nstd17</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd17">nstd17 (Conrad et al. 2005)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>935</td><td>copy number loss</td><td>935</td><td><a href="/dbvar/variants/nssv467739">nssv467739</a></td><td><a href="/dbvar?term=%22nstd17%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd17"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>935</td><td></td><td>935</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd20">nstd20</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd20">nstd20 (McCarroll et al. 2006)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>539</td><td>copy number loss</td><td>3905</td><td><a href="/dbvar/variants/nssv471644">nssv471644</a></td><td><a href="/dbvar?term=%22nstd20%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd20"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>539</td><td></td><td>3905</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd21">nstd21</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd21">nstd21 (Shaikh et al. 2009)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>13566</td><td>copy number gain</td><td>8544</td><td><a href="/dbvar/variants/nssv706124">nssv706124</a></td><td><a href="/dbvar?term=%22nstd21%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd21"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>45918</td><td><a href="/dbvar/variants/nssv706123">nssv706123</a></td><td><a href="/dbvar?term=%22nstd21%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd21"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>13566</td><td></td><td>54462</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd22">nstd22</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd22">nstd22 (McCarroll et al. 2008)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1319</td><td>copy number gain</td><td>7581</td><td><a href="/dbvar/variants/nssv1660645">nssv1660645</a></td><td><a href="/dbvar?term=%22nstd22%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd22"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>36473</td><td><a href="/dbvar/variants/nssv1660665">nssv1660665</a></td><td><a href="/dbvar?term=%22nstd22%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd22"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1319</td><td></td><td>44054</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd23">nstd23</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd23">nstd23 (Young et al. 2008)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex substitution</td><td>1</td><td>deletion</td><td>25</td><td><a href="/dbvar/variants/nssv1671983">nssv1671983</a></td><td><a href="/dbvar?term=%22nstd23%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd23"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>copy number variation</td><td>9</td><td>deletion</td><td>104</td><td><a href="/dbvar/variants/nssv1672034">nssv1672034</a></td><td><a href="/dbvar?term=%22nstd23%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd23"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>28</td><td><a href="/dbvar/variants/nssv1672060">nssv1672060</a></td><td><a href="/dbvar?term=%22nstd23%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd23"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>10</td><td></td><td>157</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd27">nstd27</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd27">nstd27 (Itsara et al. 2009)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>13843</td><td>copy number gain</td><td>3880</td><td><a href="/dbvar/variants/nssv645974">nssv645974</a></td><td><a href="/dbvar?term=%22nstd27%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd27"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>9963</td><td><a href="/dbvar/variants/nssv645994">nssv645994</a></td><td><a href="/dbvar?term=%22nstd27%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd27"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>13843</td><td></td><td>13843</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd28">nstd28</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd28">nstd28 (Zhang et al. 2009)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>6</td><td>copy number loss</td><td>6</td><td><a href="/dbvar/variants/nssv544363">nssv544363</a></td><td><a href="/dbvar?term=%22nstd28%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd28"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>6</td><td></td><td>6</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd29">nstd29</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd29">nstd29 (Locke et al. 2006)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>388</td><td>copy number gain</td><td>2802</td><td><a href="/dbvar/variants/nssv1676713">nssv1676713</a></td><td><a href="/dbvar?term=%22nstd29%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd29"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>1854</td><td><a href="/dbvar/variants/nssv1676716">nssv1676716</a></td><td><a href="/dbvar?term=%22nstd29%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd29"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>388</td><td></td><td>4656</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd30">nstd30</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd30">nstd30 (Jakobsson et al. 2008)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1428</td><td>copy number gain</td><td>1119</td><td><a href="/dbvar/variants/nssv547796">nssv547796</a></td><td><a href="/dbvar?term=%22nstd30%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd30"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>2317</td><td><a href="/dbvar/variants/nssv547799">nssv547799</a></td><td><a href="/dbvar?term=%22nstd30%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd30"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1428</td><td></td><td>3436</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd31">nstd31</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd31">nstd31 (Alkan et al. 2009)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>226</td><td>copy number gain</td><td>565</td><td><a href="/dbvar/variants/nssv548406">nssv548406</a></td><td><a href="/dbvar?term=%22nstd31%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd31"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>42</td><td><a href="/dbvar/variants/nssv548366">nssv548366</a></td><td><a href="/dbvar?term=%22nstd31%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd31"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>226</td><td></td><td>607</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd32">nstd32</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd32">nstd32 (Sharp et al. 2005)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>119</td><td>copy number gain</td><td>889</td><td><a href="/dbvar/variants/nssv650996">nssv650996</a></td><td><a href="/dbvar?term=%22nstd32%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd32"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>1489</td><td><a href="/dbvar/variants/nssv650995">nssv650995</a></td><td><a href="/dbvar?term=%22nstd32%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd32"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>119</td><td></td><td>2378</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd33">nstd33</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd33">nstd33 (Sharp et al. 2007)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>4</td><td>copy number loss</td><td>4</td><td><a href="/dbvar/variants/nssv551233">nssv551233</a></td><td><a href="/dbvar?term=%22nstd33%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd33"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>4</td><td></td><td>4</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd34">nstd34</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd34">nstd34 (Hinds et al. 2005)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>100</td><td>copy number loss</td><td>100</td><td><a href="/dbvar/variants/nssv646094">nssv646094</a></td><td><a href="/dbvar?term=%22nstd34%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd34"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>100</td><td></td><td>100</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd35">nstd35</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd35">nstd35 (Kidd et al. 2010)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex substitution</td><td>31</td><td>complex substitution</td><td>31</td><td><a href="/dbvar/variants/nssv3020474">nssv3020474</a></td><td><a href="/dbvar?term=%22nstd35%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"nstd35"[study] AND "complex substitution"[variant_type]</a></td></tr>
|
|
<tr><td>novel sequence insertion</td><td>9794</td><td>novel sequence insertion</td><td>9794</td><td><a href="/dbvar/variants/nssv3020550">nssv3020550</a></td><td><a href="/dbvar?term=%22nstd35%22%5Bstudy%5D+AND+%22novel sequence insertion%22%5Bvariant_type%5D">"nstd35"[study] AND "novel sequence insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>9825</td><td></td><td>9825</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd36">nstd36</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd36">nstd36 (Mitsui et al. 2010)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>395</td><td>deletion</td><td>352</td><td><a href="/dbvar/variants/nssv650315">nssv650315</a></td><td><a href="/dbvar?term=%22nstd36%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd36"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>45</td><td><a href="/dbvar/variants/nssv650309">nssv650309</a></td><td><a href="/dbvar?term=%22nstd36%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd36"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>395</td><td></td><td>397</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd37">nstd37</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd37">nstd37 (Miller et al. 2010)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td><strong>Total</strong></td><td>20391</td><td></td><td>33378</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd39">nstd39</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd39">nstd39 (Schuster et al. 2010)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>187</td><td>copy number gain</td><td>172</td><td><a href="/dbvar/variants/nssv558583">nssv558583</a></td><td><a href="/dbvar?term=%22nstd39%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd39"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>15</td><td><a href="/dbvar/variants/nssv558577">nssv558577</a></td><td><a href="/dbvar?term=%22nstd39%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd39"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>187</td><td></td><td>187</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd40">nstd40</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd40">nstd40 (Sharp et al. 2006)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>592</td><td>copy number gain</td><td>3167</td><td><a href="/dbvar/variants/nssv3021974">nssv3021974</a></td><td><a href="/dbvar?term=%22nstd40%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd40"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>1737</td><td><a href="/dbvar/variants/nssv3021975">nssv3021975</a></td><td><a href="/dbvar?term=%22nstd40%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd40"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td>sequence alteration</td><td>97</td><td>sequence alteration</td><td>151</td><td><a href="/dbvar/variants/nssv3010725">nssv3010725</a></td><td><a href="/dbvar?term=%22nstd40%22%5Bstudy%5D+AND+%22sequence alteration%22%5Bvariant_type%5D">"nstd40"[study] AND "sequence alteration"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>689</td><td></td><td>5055</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd41">nstd41</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd41">nstd41 (Iafrate et al. 2004)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>255</td><td>copy number gain</td><td>290</td><td><a href="/dbvar/variants/nssv2996563">nssv2996563</a></td><td><a href="/dbvar?term=%22nstd41%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd41"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>393</td><td><a href="/dbvar/variants/nssv2996562">nssv2996562</a></td><td><a href="/dbvar?term=%22nstd41%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd41"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>255</td><td></td><td>683</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd42">nstd42</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd42">nstd42 (Sharp et al. 2008)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>copy number loss</td><td>11</td><td><a href="/dbvar/variants/nssv566908">nssv566908</a></td><td><a href="/dbvar?term=%22nstd42%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd42"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>11</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd43">nstd43</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd43">nstd43 (Kim et al. 2009)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1286</td><td>copy number gain</td><td>612</td><td><a href="/dbvar/variants/nssv1419879">nssv1419879</a></td><td><a href="/dbvar?term=%22nstd43%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd43"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>689</td><td><a href="/dbvar/variants/nssv1419878">nssv1419878</a></td><td><a href="/dbvar?term=%22nstd43%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd43"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>32</td><td>insertion</td><td>32</td><td><a href="/dbvar/variants/nssv1418919">nssv1418919</a></td><td><a href="/dbvar?term=%22nstd43%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd43"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1318</td><td></td><td>1333</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd45">nstd45</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd45">nstd45 (Riggs et al. 2011)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>364</td><td>copy number gain</td><td>39</td><td><a href="/dbvar/variants/nssv4004222">nssv4004222</a></td><td><a href="/dbvar?term=%22nstd45%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd45"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>358</td><td><a href="/dbvar/variants/nssv8635345">nssv8635345</a></td><td><a href="/dbvar?term=%22nstd45%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd45"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>364</td><td></td><td>397</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd46">nstd46</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd46">nstd46 (Campbell et al. 2011)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1183</td><td>copy number gain</td><td>121034</td><td><a href="/dbvar/variants/nssv2995875">nssv2995875</a></td><td><a href="/dbvar?term=%22nstd46%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd46"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>106346</td><td><a href="/dbvar/variants/nssv2995785">nssv2995785</a></td><td><a href="/dbvar?term=%22nstd46%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd46"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1183</td><td></td><td>227380</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd47">nstd47</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd47">nstd47 (Kidd et al. 2010)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1058</td><td>copy number gain</td><td>427</td><td><a href="/dbvar/variants/nssv586548">nssv586548</a></td><td><a href="/dbvar?term=%22nstd47%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd47"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>631</td><td><a href="/dbvar/variants/nssv586538">nssv586538</a></td><td><a href="/dbvar?term=%22nstd47%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd47"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>109</td><td>inversion</td><td>109</td><td><a href="/dbvar/variants/nssv585599">nssv585599</a></td><td><a href="/dbvar?term=%22nstd47%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd47"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1167</td><td></td><td>1167</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd49">nstd49</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd49">nstd49 (Teague et al. 2010)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex substitution</td><td>239</td><td>complex substitution</td><td>336</td><td><a href="/dbvar/variants/nssv624375">nssv624375</a></td><td><a href="/dbvar?term=%22nstd49%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"nstd49"[study] AND "complex substitution"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>inversion</td><td>8</td><td><a href="/dbvar/variants/nssv624360">nssv624360</a></td><td><a href="/dbvar?term=%22nstd49%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd49"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>copy number variation</td><td>878</td><td>deletion</td><td>1208</td><td><a href="/dbvar/variants/nssv622822">nssv622822</a></td><td><a href="/dbvar?term=%22nstd49%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd49"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>1089</td><td>insertion</td><td>1761</td><td><a href="/dbvar/variants/nssv623878">nssv623878</a></td><td><a href="/dbvar?term=%22nstd49%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd49"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>17</td><td>inversion</td><td>29</td><td><a href="/dbvar/variants/nssv624363">nssv624363</a></td><td><a href="/dbvar?term=%22nstd49%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd49"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>sequence alteration</td><td>1974</td><td>sequence alteration</td><td>3682</td><td><a href="/dbvar/variants/nssv624286">nssv624286</a></td><td><a href="/dbvar?term=%22nstd49%22%5Bstudy%5D+AND+%22sequence alteration%22%5Bvariant_type%5D">"nstd49"[study] AND "sequence alteration"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>4197</td><td></td><td>7024</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd50">nstd50</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd50">nstd50 (Arlt et al. 2011)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1856</td><td>copy number gain</td><td>102</td><td><a href="/dbvar/variants/nssv626698">nssv626698</a></td><td><a href="/dbvar?term=%22nstd50%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd50"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>1754</td><td><a href="/dbvar/variants/nssv626808">nssv626808</a></td><td><a href="/dbvar?term=%22nstd50%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd50"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>684</td><td>insertion</td><td>684</td><td><a href="/dbvar/variants/nssv627016">nssv627016</a></td><td><a href="/dbvar?term=%22nstd50%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd50"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>97</td><td>inversion</td><td>97</td><td><a href="/dbvar/variants/nssv626980">nssv626980</a></td><td><a href="/dbvar?term=%22nstd50%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd50"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>2637</td><td></td><td>2637</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd51">nstd51</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd51">nstd51 (User submitted curated variants)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td><strong>Total</strong></td><td>229</td><td></td><td>230</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd52">nstd52</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd52">nstd52 (Watkins et al. 2011)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>copy number loss</td><td>1</td><td><a href="/dbvar/variants/nssv628513">nssv628513</a></td><td><a href="/dbvar?term=%22nstd52%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd52"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd53">nstd53</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd53">nstd53 (Tüttelmann et al. 2011)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>900</td><td>copy number gain</td><td>1576</td><td><a href="/dbvar/variants/nssv1499049">nssv1499049</a></td><td><a href="/dbvar?term=%22nstd53%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd53"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>1701</td><td><a href="/dbvar/variants/nssv1499048">nssv1499048</a></td><td><a href="/dbvar?term=%22nstd53%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd53"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>900</td><td></td><td>3277</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd54">nstd54</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd54">nstd54 (Cooper et al. 2011)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>81345</td><td>copy number gain</td><td>59880</td><td><a href="/dbvar/variants/nssv999467">nssv999467</a></td><td><a href="/dbvar?term=%22nstd54%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd54"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>409029</td><td><a href="/dbvar/variants/nssv999999">nssv999999</a></td><td><a href="/dbvar?term=%22nstd54%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd54"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>81345</td><td></td><td>468909</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd55">nstd55</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd55">nstd55 (Zhu et al. 2011)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>7</td><td>deletion</td><td>9</td><td><a href="/dbvar/variants/nssv650721">nssv650721</a></td><td><a href="/dbvar?term=%22nstd55%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd55"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>7</td><td></td><td>9</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd58">nstd58</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd58">nstd58 (Forsberg et al. 2012)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex substitution</td><td>2</td><td>complex substitution</td><td>2</td><td><a href="/dbvar/variants/nssv1415557">nssv1415557</a></td><td><a href="/dbvar?term=%22nstd58%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"nstd58"[study] AND "complex substitution"[variant_type]</a></td></tr>
|
|
<tr><td>copy number variation</td><td>5</td><td>copy number gain</td><td>2</td><td><a href="/dbvar/variants/nssv1415559">nssv1415559</a></td><td><a href="/dbvar?term=%22nstd58%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd58"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>3</td><td><a href="/dbvar/variants/nssv1415556">nssv1415556</a></td><td><a href="/dbvar?term=%22nstd58%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd58"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>7</td><td></td><td>7</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd59">nstd59</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd59">nstd59 (Lopez-Herrera et al. 2012)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>deletion</td><td>1</td><td><a href="/dbvar/variants/nssv1495772">nssv1495772</a></td><td><a href="/dbvar?term=%22nstd59%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd59"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd64">nstd64</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd64">nstd64 (Wang et al. 2007)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1383</td><td>copy number gain</td><td>927</td><td><a href="/dbvar/variants/nssv1418540">nssv1418540</a></td><td><a href="/dbvar?term=%22nstd64%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd64"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>2060</td><td><a href="/dbvar/variants/nssv1418546">nssv1418546</a></td><td><a href="/dbvar?term=%22nstd64%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd64"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1383</td><td></td><td>2987</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd65">nstd65</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd65">nstd65 (Ju et al. 2010)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1299</td><td>deletion</td><td>1016</td><td><a href="/dbvar/variants/nssv1421174">nssv1421174</a></td><td><a href="/dbvar?term=%22nstd65%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd65"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>283</td><td><a href="/dbvar/variants/nssv1421178">nssv1421178</a></td><td><a href="/dbvar?term=%22nstd65%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd65"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1299</td><td></td><td>1299</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd66">nstd66</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd66">nstd66 (Sebat et al. 2004)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>81</td><td>copy number gain</td><td>131</td><td><a href="/dbvar/variants/nssv1421412">nssv1421412</a></td><td><a href="/dbvar?term=%22nstd66%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd66"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>108</td><td><a href="/dbvar/variants/nssv1421417">nssv1421417</a></td><td><a href="/dbvar?term=%22nstd66%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd66"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>81</td><td></td><td>239</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd67">nstd67</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd67">nstd67 (Park et al. 2010)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>7950</td><td>copy number gain</td><td>5502</td><td><a href="/dbvar/variants/nssv1441512">nssv1441512</a></td><td><a href="/dbvar?term=%22nstd67%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd67"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>14597</td><td><a href="/dbvar/variants/nssv1441516">nssv1441516</a></td><td><a href="/dbvar?term=%22nstd67%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd67"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>7950</td><td></td><td>20099</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd68">nstd68</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd68">nstd68 (Wong et al. 2006)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>5132</td><td>copy number gain</td><td>7048</td><td><a href="/dbvar/variants/nssv1456207">nssv1456207</a></td><td><a href="/dbvar?term=%22nstd68%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd68"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>7661</td><td><a href="/dbvar/variants/nssv1456225">nssv1456225</a></td><td><a href="/dbvar?term=%22nstd68%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd68"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>5132</td><td></td><td>14709</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd71">nstd71</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd71">nstd71 (Xu et al. 2011)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>45084</td><td>copy number gain</td><td>32555</td><td><a href="/dbvar/variants/nssv1601261">nssv1601261</a></td><td><a href="/dbvar?term=%22nstd71%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd71"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>69657</td><td><a href="/dbvar/variants/nssv1601257">nssv1601257</a></td><td><a href="/dbvar?term=%22nstd71%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd71"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>45084</td><td></td><td>102212</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd72">nstd72</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd72">nstd72 (Morak et al. 2012)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>5</td><td>deletion</td><td>5</td><td><a href="/dbvar/variants/nssv2995880">nssv2995880</a></td><td><a href="/dbvar?term=%22nstd72%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd72"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>5</td><td></td><td>5</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd73">nstd73</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd73">nstd73 (Dogan et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>8965</td><td>deletion</td><td>7302</td><td><a href="/dbvar/variants/nssv3005672">nssv3005672</a></td><td><a href="/dbvar?term=%22nstd73%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd73"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>1663</td><td><a href="/dbvar/variants/nssv3003153">nssv3003153</a></td><td><a href="/dbvar?term=%22nstd73%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd73"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>144</td><td>insertion</td><td>144</td><td><a href="/dbvar/variants/nssv3005544">nssv3005544</a></td><td><a href="/dbvar?term=%22nstd73%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd73"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>9109</td><td></td><td>9109</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd75">nstd75</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd75">nstd75 (Wapner et al. 2012)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>927</td><td>copy number gain</td><td>1676</td><td><a href="/dbvar/variants/nssv1607642">nssv1607642</a></td><td><a href="/dbvar?term=%22nstd75%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd75"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>743</td><td><a href="/dbvar/variants/nssv1607643">nssv1607643</a></td><td><a href="/dbvar?term=%22nstd75%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd75"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>927</td><td></td><td>2419</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd76">nstd76</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd76">nstd76 (Watson et al. 2013)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex substitution</td><td>2</td><td>complex substitution</td><td>2</td><td><a href="/dbvar/variants/nssv1607658">nssv1607658</a></td><td><a href="/dbvar?term=%22nstd76%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"nstd76"[study] AND "complex substitution"[variant_type]</a></td></tr>
|
|
<tr><td>copy number variation</td><td>2</td><td>deletion</td><td>2</td><td><a href="/dbvar/variants/nssv1607660">nssv1607660</a></td><td><a href="/dbvar?term=%22nstd76%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd76"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>4</td><td>insertion</td><td>6</td><td><a href="/dbvar/variants/nssv1607661">nssv1607661</a></td><td><a href="/dbvar?term=%22nstd76%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd76"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>tandem duplication</td><td>1</td><td>tandem duplication</td><td>2</td><td><a href="/dbvar/variants/nssv1607655">nssv1607655</a></td><td><a href="/dbvar?term=%22nstd76%22%5Bstudy%5D+AND+%22tandem duplication%22%5Bvariant_type%5D">"nstd76"[study] AND "tandem duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>9</td><td></td><td>12</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd77">nstd77</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd77">nstd77 (Polley et al. 2016)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>2</td><td>copy number variation</td><td>10684</td><td><a href="/dbvar/variants/nssv7487009">nssv7487009</a></td><td><a href="/dbvar?term=%22nstd77%22%5Bstudy%5D+AND+%22copy number variation%22%5Bvariant_type%5D">"nstd77"[study] AND "copy number variation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>2</td><td></td><td>10684</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd78">nstd78</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd78">nstd78 (Schrider et al. 2013)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>17</td><td>deletion</td><td>17</td><td><a href="/dbvar/variants/nssv1607678">nssv1607678</a></td><td><a href="/dbvar?term=%22nstd78%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd78"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>21</td><td>insertion</td><td>21</td><td><a href="/dbvar/variants/nssv1607699">nssv1607699</a></td><td><a href="/dbvar?term=%22nstd78%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd78"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>38</td><td></td><td>38</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd79">nstd79</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd79">nstd79 (Dittwald et al. 2013)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>64</td><td>deletion</td><td>1103</td><td><a href="/dbvar/variants/nssv1612826">nssv1612826</a></td><td><a href="/dbvar?term=%22nstd79%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd79"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>1110</td><td><a href="/dbvar/variants/nssv1612824">nssv1612824</a></td><td><a href="/dbvar?term=%22nstd79%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd79"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>64</td><td></td><td>2213</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd80">nstd80</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd80">nstd80 (Boone et al. 2013)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1512</td><td>deletion</td><td>3785</td><td><a href="/dbvar/variants/nssv1616611">nssv1616611</a></td><td><a href="/dbvar?term=%22nstd80%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd80"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1512</td><td></td><td>3785</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd81">nstd81</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd81">nstd81 (Low et al. 2016)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>copy number gain</td><td>2</td><td><a href="/dbvar/variants/nssv1660667">nssv1660667</a></td><td><a href="/dbvar?term=%22nstd81%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd81"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>2</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd82">nstd82</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd82">nstd82 (Sudmant et al. 2013)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>28214</td><td>deletion</td><td>322967</td><td><a href="/dbvar/variants/nssv3442520">nssv3442520</a></td><td><a href="/dbvar?term=%22nstd82%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd82"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>1006362</td><td><a href="/dbvar/variants/nssv2766832">nssv2766832</a></td><td><a href="/dbvar?term=%22nstd82%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd82"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>28214</td><td></td><td>1329329</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd83">nstd83</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd83">nstd83 (Morak et al. 2013)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>15</td><td>deletion</td><td>15</td><td><a href="/dbvar/variants/nssv3020585">nssv3020585</a></td><td><a href="/dbvar?term=%22nstd83%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd83"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>translocation</td><td>10</td><td>interchromosomal translocation</td><td>20</td><td><a href="/dbvar/variants/nssv3020570">nssv3020570</a></td><td><a href="/dbvar?term=%22nstd83%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"nstd83"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>25</td><td></td><td>35</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd84">nstd84</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd84">nstd84 (de Ligt et al. 2013)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>10376</td><td>copy number gain</td><td>5299</td><td><a href="/dbvar/variants/nssv1671721">nssv1671721</a></td><td><a href="/dbvar?term=%22nstd84%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd84"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>5765</td><td><a href="/dbvar/variants/nssv1671731">nssv1671731</a></td><td><a href="/dbvar?term=%22nstd84%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd84"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>10376</td><td></td><td>11064</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd85">nstd85</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd85">nstd85 (Vulto-van Silfhout et al. 2013)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1416</td><td>copy number gain</td><td>838</td><td><a href="/dbvar/variants/nssv2768491">nssv2768491</a></td><td><a href="/dbvar?term=%22nstd85%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd85"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>825</td><td><a href="/dbvar/variants/nssv2768495">nssv2768495</a></td><td><a href="/dbvar?term=%22nstd85%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd85"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1416</td><td></td><td>1663</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd86">nstd86</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd86">nstd86 (Poultney et al. 2013)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1030</td><td>deletion</td><td>418</td><td><a href="/dbvar/variants/nssv3021969">nssv3021969</a></td><td><a href="/dbvar?term=%22nstd86%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd86"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>966</td><td><a href="/dbvar/variants/nssv3021971">nssv3021971</a></td><td><a href="/dbvar?term=%22nstd86%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd86"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1030</td><td></td><td>1386</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd89">nstd89</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd89">nstd89 (de Boer et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>mobile element insertion</td><td>1</td><td>mobile element insertion</td><td>1</td><td><a href="/dbvar/variants/nssv3217055">nssv3217055</a></td><td><a href="/dbvar?term=%22nstd89%22%5Bstudy%5D+AND+%22mobile element insertion%22%5Bvariant_type%5D">"nstd89"[study] AND "mobile element insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd90">nstd90</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd90">nstd90 (dbSNP curated variants)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>954</td><td>deletion</td><td>954</td><td><a href="/dbvar/variants/nssv14043468">nssv14043468</a></td><td><a href="/dbvar?term=%22nstd90%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd90"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>delins</td><td>252</td><td>delins</td><td>252</td><td><a href="/dbvar/variants/nssv14043461">nssv14043461</a></td><td><a href="/dbvar?term=%22nstd90%22%5Bstudy%5D+AND+%22delins%22%5Bvariant_type%5D">"nstd90"[study] AND "delins"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>3506</td><td>insertion</td><td>3509</td><td><a href="/dbvar/variants/nssv14043466">nssv14043466</a></td><td><a href="/dbvar?term=%22nstd90%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd90"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element insertion</td><td>2</td><td>mobile element insertion</td><td>3</td><td><a href="/dbvar/variants/nssv14041281">nssv14041281</a></td><td><a href="/dbvar?term=%22nstd90%22%5Bstudy%5D+AND+%22mobile element insertion%22%5Bvariant_type%5D">"nstd90"[study] AND "mobile element insertion"[variant_type]</a></td></tr>
|
|
<tr><td>novel sequence insertion</td><td>1</td><td>novel sequence insertion</td><td>4</td><td><a href="/dbvar/variants/nssv14043253">nssv14043253</a></td><td><a href="/dbvar?term=%22nstd90%22%5Bstudy%5D+AND+%22novel sequence insertion%22%5Bvariant_type%5D">"nstd90"[study] AND "novel sequence insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>4715</td><td></td><td>4722</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd91">nstd91</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd91">nstd91 (Sallustio et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>148</td><td>copy number gain</td><td>43</td><td><a href="/dbvar/variants/nssv3217194">nssv3217194</a></td><td><a href="/dbvar?term=%22nstd91%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd91"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>105</td><td><a href="/dbvar/variants/nssv3217203">nssv3217203</a></td><td><a href="/dbvar?term=%22nstd91%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd91"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>148</td><td></td><td>148</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd92">nstd92</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd92">nstd92 (Forsberg et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex substitution</td><td>19</td><td>complex substitution</td><td>19</td><td><a href="/dbvar/variants/nssv3217438">nssv3217438</a></td><td><a href="/dbvar?term=%22nstd92%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"nstd92"[study] AND "complex substitution"[variant_type]</a></td></tr>
|
|
<tr><td>copy number variation</td><td>226</td><td>copy number gain</td><td>17</td><td><a href="/dbvar/variants/nssv3217446">nssv3217446</a></td><td><a href="/dbvar?term=%22nstd92%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd92"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>209</td><td><a href="/dbvar/variants/nssv3217448">nssv3217448</a></td><td><a href="/dbvar?term=%22nstd92%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd92"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>245</td><td></td><td>245</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd93">nstd93</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd93">nstd93 (Lindstrand et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>copy number loss</td><td>1</td><td><a href="/dbvar/variants/nssv3397476">nssv3397476</a></td><td><a href="/dbvar?term=%22nstd93%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd93"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd94">nstd94</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd94">nstd94 (Helman et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>mobile element insertion</td><td>8568</td><td>mobile element insertion</td><td>177458</td><td><a href="/dbvar/variants/nssv3394906">nssv3394906</a></td><td><a href="/dbvar?term=%22nstd94%22%5Bstudy%5D+AND+%22mobile element insertion%22%5Bvariant_type%5D">"nstd94"[study] AND "mobile element insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>8568</td><td></td><td>177458</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd97">nstd97</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd97">nstd97 (Lou et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>2558</td><td>deletion</td><td>15926</td><td><a href="/dbvar/variants/nssv4023098">nssv4023098</a></td><td><a href="/dbvar?term=%22nstd97%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd97"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>2949</td><td><a href="/dbvar/variants/nssv4023095">nssv4023095</a></td><td><a href="/dbvar?term=%22nstd97%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd97"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>2558</td><td></td><td>18875</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd98">nstd98</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd98">nstd98 (Campbell et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>16</td><td>deletion</td><td>15</td><td><a href="/dbvar/variants/nssv3761539">nssv3761539</a></td><td><a href="/dbvar?term=%22nstd98%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd98"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>3</td><td><a href="/dbvar/variants/nssv3761533">nssv3761533</a></td><td><a href="/dbvar?term=%22nstd98%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd98"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>16</td><td></td><td>18</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd99">nstd99</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd99">nstd99 (Thareja et al. 2015)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>9319</td><td>deletion</td><td>7622</td><td><a href="/dbvar/variants/nssv3773075">nssv3773075</a></td><td><a href="/dbvar?term=%22nstd99%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd99"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>1697</td><td><a href="/dbvar/variants/nssv3773076">nssv3773076</a></td><td><a href="/dbvar?term=%22nstd99%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd99"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>585</td><td>insertion</td><td>585</td><td><a href="/dbvar/variants/nssv3773059">nssv3773059</a></td><td><a href="/dbvar?term=%22nstd99%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd99"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>135</td><td>inversion</td><td>135</td><td><a href="/dbvar/variants/nssv3773039">nssv3773039</a></td><td><a href="/dbvar?term=%22nstd99%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd99"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>translocation</td><td>1077</td><td>interchromosomal translocation</td><td>602</td><td><a href="/dbvar/variants/nssv3773078">nssv3773078</a></td><td><a href="/dbvar?term=%22nstd99%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"nstd99"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>475</td><td><a href="/dbvar/variants/nssv3773077">nssv3773077</a></td><td><a href="/dbvar?term=%22nstd99%22%5Bstudy%5D+AND+%22intrachromosomal translocation%22%5Bvariant_type%5D">"nstd99"[study] AND "intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>11116</td><td></td><td>11116</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd100">nstd100</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd100">nstd100 (Coe et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>70319</td><td>copy number gain</td><td>146233</td><td><a href="/dbvar/variants/nssv3761521">nssv3761521</a></td><td><a href="/dbvar?term=%22nstd100%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd100"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>172542</td><td><a href="/dbvar/variants/nssv3761519">nssv3761519</a></td><td><a href="/dbvar?term=%22nstd100%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd100"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>70319</td><td></td><td>318775</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd101">nstd101</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd101">nstd101 (Kaminsky et al. 2011)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td><strong>Total</strong></td><td>3105</td><td></td><td>3833</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd102">nstd102</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd102">nstd102 (Clinical Structural Variants)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex chromosomal rearrangement</td><td>244</td><td>copy number gain</td><td>16</td><td><a href="/dbvar/variants/nssv17976009">nssv17976009</a></td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd102"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>37</td><td><a href="/dbvar/variants/nssv17976033">nssv17976033</a></td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd102"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>interchromosomal translocation</td><td>493</td><td><a href="/dbvar/variants/nssv17976048">nssv17976048</a></td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"nstd102"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>285</td><td><a href="/dbvar/variants/nssv17976046">nssv17976046</a></td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22intrachromosomal translocation%22%5Bvariant_type%5D">"nstd102"[study] AND "intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>inversion</td><td>87</td><td><a href="/dbvar/variants/nssv17976050">nssv17976050</a></td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd102"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>complex substitution</td><td>69</td><td>complex substitution</td><td>69</td><td><a href="/dbvar/variants/nssv18792596">nssv18792596</a></td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"nstd102"[study] AND "complex substitution"[variant_type]</a></td></tr>
|
|
<tr><td>copy number variation</td><td>82238</td><td>copy number gain</td><td>29928</td><td><a href="/dbvar/variants/nssv8640035">nssv8640035</a></td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd102"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>30791</td><td><a href="/dbvar/variants/nssv8640025">nssv8640025</a></td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd102"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>16823</td><td><a href="/dbvar/variants/nssv8640034">nssv8640034</a></td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd102"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>8513</td><td><a href="/dbvar/variants/nssv8640032">nssv8640032</a></td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd102"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>delins</td><td>406</td><td>delins</td><td>460</td><td><a href="/dbvar/variants/nssv8639995">nssv8639995</a></td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22delins%22%5Bvariant_type%5D">"nstd102"[study] AND "delins"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>547</td><td>insertion</td><td>598</td><td><a href="/dbvar/variants/nssv18830900">nssv18830900</a></td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd102"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>31</td><td>inversion</td><td>31</td><td><a href="/dbvar/variants/nssv8639464">nssv8639464</a></td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd102"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>tandem duplication</td><td>1</td><td>tandem duplication</td><td>1</td><td><a href="/dbvar/variants/nssv15776766">nssv15776766</a></td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22tandem duplication%22%5Bvariant_type%5D">"nstd102"[study] AND "tandem duplication"[variant_type]</a></td></tr>
|
|
<tr><td>translocation</td><td>1</td><td>interchromosomal translocation</td><td>1</td><td><a href="/dbvar/variants/nssv17975424">nssv17975424</a></td><td><a href="/dbvar?term=%22nstd102%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"nstd102"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>83537</td><td></td><td>88133</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd103">nstd103</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd103">nstd103 (LSDB submitted variants)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td><strong>Total</strong></td><td>130</td><td></td><td>130</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd104">nstd104</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd104">nstd104 (Dumanski et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>copy number loss</td><td>328</td><td><a href="/dbvar/variants/nssv3761961">nssv3761961</a></td><td><a href="/dbvar?term=%22nstd104%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd104"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>328</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd105">nstd105</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd105">nstd105 (Onozawa et al. 2015)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>insertion</td><td>171</td><td>insertion</td><td>171</td><td><a href="/dbvar/variants/nssv4004212">nssv4004212</a></td><td><a href="/dbvar?term=%22nstd105%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd105"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>171</td><td></td><td>171</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd106">nstd106</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd106">nstd106 (Alsmadi et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>31223</td><td>deletion</td><td>30823</td><td><a href="/dbvar/variants/nssv3995601">nssv3995601</a></td><td><a href="/dbvar?term=%22nstd106%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd106"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>4237</td><td><a href="/dbvar/variants/nssv3993245">nssv3993245</a></td><td><a href="/dbvar?term=%22nstd106%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd106"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>1044</td><td>insertion</td><td>1044</td><td><a href="/dbvar/variants/nssv3993357">nssv3993357</a></td><td><a href="/dbvar?term=%22nstd106%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd106"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>1137</td><td>inversion</td><td>1218</td><td><a href="/dbvar/variants/nssv3993558">nssv3993558</a></td><td><a href="/dbvar?term=%22nstd106%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd106"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>tandem duplication</td><td>3412</td><td>tandem duplication</td><td>3976</td><td><a href="/dbvar/variants/nssv3994060">nssv3994060</a></td><td><a href="/dbvar?term=%22nstd106%22%5Bstudy%5D+AND+%22tandem duplication%22%5Bvariant_type%5D">"nstd106"[study] AND "tandem duplication"[variant_type]</a></td></tr>
|
|
<tr><td>translocation</td><td>2862</td><td>interchromosomal translocation</td><td>1679</td><td><a href="/dbvar/variants/nssv4025986">nssv4025986</a></td><td><a href="/dbvar?term=%22nstd106%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"nstd106"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>1211</td><td><a href="/dbvar/variants/nssv4025988">nssv4025988</a></td><td><a href="/dbvar?term=%22nstd106%22%5Bstudy%5D+AND+%22intrachromosomal translocation%22%5Bvariant_type%5D">"nstd106"[study] AND "intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>39678</td><td></td><td>44188</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd107">nstd107</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd107">nstd107 (John et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>5363</td><td>deletion</td><td>2891</td><td><a href="/dbvar/variants/nssv4004040">nssv4004040</a></td><td><a href="/dbvar?term=%22nstd107%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd107"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>2472</td><td><a href="/dbvar/variants/nssv4004035">nssv4004035</a></td><td><a href="/dbvar?term=%22nstd107%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd107"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>1580</td><td>insertion</td><td>1580</td><td><a href="/dbvar/variants/nssv4004041">nssv4004041</a></td><td><a href="/dbvar?term=%22nstd107%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd107"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>114</td><td>inversion</td><td>114</td><td><a href="/dbvar/variants/nssv4003903">nssv4003903</a></td><td><a href="/dbvar?term=%22nstd107%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd107"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>translocation</td><td>1383</td><td>interchromosomal translocation</td><td>922</td><td><a href="/dbvar/variants/nssv4004024">nssv4004024</a></td><td><a href="/dbvar?term=%22nstd107%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"nstd107"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>461</td><td><a href="/dbvar/variants/nssv4004025">nssv4004025</a></td><td><a href="/dbvar?term=%22nstd107%22%5Bstudy%5D+AND+%22intrachromosomal translocation%22%5Bvariant_type%5D">"nstd107"[study] AND "intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>8440</td><td></td><td>8440</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd109">nstd109</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd109">nstd109 (Wildschutte et al. 2015)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>mobile element insertion</td><td>1614</td><td>alu insertion</td><td>1614</td><td><a href="/dbvar/variants/nssv4042683">nssv4042683</a></td><td><a href="/dbvar?term=%22nstd109%22%5Bstudy%5D+AND+%22alu insertion%22%5Bvariant_type%5D">"nstd109"[study] AND "alu insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1614</td><td></td><td>1614</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd111">nstd111</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd111">nstd111 (Lou et al. 2015)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>2233</td><td>deletion</td><td>12685</td><td><a href="/dbvar/variants/nssv4041069">nssv4041069</a></td><td><a href="/dbvar?term=%22nstd111%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd111"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>2396</td><td><a href="/dbvar/variants/nssv4040908">nssv4040908</a></td><td><a href="/dbvar?term=%22nstd111%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd111"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>2233</td><td></td><td>15081</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd112">nstd112</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd112">nstd112 (Sudmant et al. 2015)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>15012</td><td>copy number variation</td><td>945877</td><td><a href="/dbvar/variants/nssv7457585">nssv7457585</a></td><td><a href="/dbvar?term=%22nstd112%22%5Bstudy%5D+AND+%22copy number variation%22%5Bvariant_type%5D">"nstd112"[study] AND "copy number variation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>1690063</td><td><a href="/dbvar/variants/nssv7458941">nssv7458941</a></td><td><a href="/dbvar?term=%22nstd112%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd112"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>667357</td><td><a href="/dbvar/variants/nssv7457811">nssv7457811</a></td><td><a href="/dbvar?term=%22nstd112%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd112"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>15012</td><td></td><td>3303297</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd113">nstd113</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd113">nstd113 (Polyak et al. 2015)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>9010</td><td>copy number gain</td><td>8901</td><td><a href="/dbvar/variants/nssv7475768">nssv7475768</a></td><td><a href="/dbvar?term=%22nstd113%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd113"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>7927</td><td><a href="/dbvar/variants/nssv7475769">nssv7475769</a></td><td><a href="/dbvar?term=%22nstd113%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd113"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>9010</td><td></td><td>16828</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd116">nstd116</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd116">nstd116 (Forni et al. 2015)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>copy number variation</td><td>1285</td><td><a href="/dbvar/variants/nssv8641364">nssv8641364</a></td><td><a href="/dbvar?term=%22nstd116%22%5Bstudy%5D+AND+%22copy number variation%22%5Bvariant_type%5D">"nstd116"[study] AND "copy number variation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1285</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd118">nstd118</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd118">nstd118 (Polley et al. 2015)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>2</td><td>copy number variation</td><td>3917</td><td><a href="/dbvar/variants/nssv8639264">nssv8639264</a></td><td><a href="/dbvar?term=%22nstd118%22%5Bstudy%5D+AND+%22copy number variation%22%5Bvariant_type%5D">"nstd118"[study] AND "copy number variation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>2</td><td></td><td>3917</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd122">nstd122</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd122">nstd122 (Duyzend et al. 2015)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>94923</td><td>copy number gain</td><td>125173</td><td><a href="/dbvar/variants/nssv8635319">nssv8635319</a></td><td><a href="/dbvar?term=%22nstd122%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd122"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>911922</td><td><a href="/dbvar/variants/nssv8635318">nssv8635318</a></td><td><a href="/dbvar?term=%22nstd122%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd122"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>94923</td><td></td><td>1037095</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd124">nstd124</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd124">nstd124 (Binder et al. 2016)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>insertion</td><td>1</td><td>insertion</td><td>1</td><td><a href="/dbvar/variants/nssv8635346">nssv8635346</a></td><td><a href="/dbvar?term=%22nstd124%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd124"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element insertion</td><td>1</td><td>alu insertion</td><td>1</td><td><a href="/dbvar/variants/nssv8635347">nssv8635347</a></td><td><a href="/dbvar?term=%22nstd124%22%5Bstudy%5D+AND+%22alu insertion%22%5Bvariant_type%5D">"nstd124"[study] AND "alu insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>2</td><td></td><td>2</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd125">nstd125</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd125">nstd125 (Wills et al. 2016)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex substitution</td><td>2</td><td>complex substitution</td><td>3</td><td><a href="/dbvar/variants/nssv13638307">nssv13638307</a></td><td><a href="/dbvar?term=%22nstd125%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"nstd125"[study] AND "complex substitution"[variant_type]</a></td></tr>
|
|
<tr><td>copy number variation</td><td>6</td><td>copy number gain</td><td>3</td><td><a href="/dbvar/variants/nssv13638284">nssv13638284</a></td><td><a href="/dbvar?term=%22nstd125%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd125"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>7</td><td><a href="/dbvar/variants/nssv13638299">nssv13638299</a></td><td><a href="/dbvar?term=%22nstd125%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd125"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td>copy-neutral loss of heterozygosity</td><td>26</td><td>copy-neutral loss of heterozygosity</td><td>26</td><td><a href="/dbvar/variants/nssv13638310">nssv13638310</a></td><td><a href="/dbvar?term=%22nstd125%22%5Bstudy%5D+AND+%22copy-neutral loss of heterozygosity%22%5Bvariant_type%5D">"nstd125"[study] AND "copy-neutral loss of heterozygosity"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>34</td><td></td><td>39</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd127">nstd127</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd127">nstd127 (Dumanski et al. 2016)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>copy number loss</td><td>248</td><td><a href="/dbvar/variants/nssv8641612">nssv8641612</a></td><td><a href="/dbvar?term=%22nstd127%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd127"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>248</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd128">nstd128</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd128">nstd128 (Mallick et al. 2016)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>short tandem repeat</td><td>1328521</td><td>short tandem repeat</td><td>4394628</td><td><a href="/dbvar/variants/nssv9999999">nssv9999999</a></td><td><a href="/dbvar?term=%22nstd128%22%5Bstudy%5D+AND+%22short tandem repeat%22%5Bvariant_type%5D">"nstd128"[study] AND "short tandem repeat"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1328521</td><td></td><td>4394628</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd129">nstd129</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd129">nstd129 (Guo et al. 2016)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>copy number loss</td><td>1</td><td><a href="/dbvar/variants/nssv8641613">nssv8641613</a></td><td><a href="/dbvar?term=%22nstd129%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd129"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd130">nstd130</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd130">nstd130 (Leppa et al. 2016)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>39657</td><td>deletion</td><td>52346</td><td><a href="/dbvar/variants/nssv13638270">nssv13638270</a></td><td><a href="/dbvar?term=%22nstd130%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd130"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>58118</td><td><a href="/dbvar/variants/nssv13638271">nssv13638271</a></td><td><a href="/dbvar?term=%22nstd130%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd130"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>39657</td><td></td><td>110464</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd132">nstd132</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd132">nstd132 (Walker et al. 2017)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>6173</td><td>copy number loss</td><td>15888</td><td><a href="/dbvar/variants/nssv13676513">nssv13676513</a></td><td><a href="/dbvar?term=%22nstd132%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd132"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>6173</td><td></td><td>15888</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd133">nstd133</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd133">nstd133 (Redin et al. 2016)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex chromosomal rearrangement</td><td>245</td><td>copy number gain</td><td>16</td><td><a href="/dbvar/variants/nssv13660481">nssv13660481</a></td><td><a href="/dbvar?term=%22nstd133%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd133"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>37</td><td><a href="/dbvar/variants/nssv13660625">nssv13660625</a></td><td><a href="/dbvar?term=%22nstd133%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd133"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>interchromosomal translocation</td><td>495</td><td><a href="/dbvar/variants/nssv13660621">nssv13660621</a></td><td><a href="/dbvar?term=%22nstd133%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"nstd133"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>285</td><td><a href="/dbvar/variants/nssv13660624">nssv13660624</a></td><td><a href="/dbvar?term=%22nstd133%22%5Bstudy%5D+AND+%22intrachromosomal translocation%22%5Bvariant_type%5D">"nstd133"[study] AND "intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>inversion</td><td>87</td><td><a href="/dbvar/variants/nssv13660509">nssv13660509</a></td><td><a href="/dbvar?term=%22nstd133%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd133"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>translocation</td><td>1</td><td>interchromosomal translocation</td><td>1</td><td><a href="/dbvar/variants/nssv13660168">nssv13660168</a></td><td><a href="/dbvar?term=%22nstd133%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"nstd133"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>246</td><td></td><td>921</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd136">nstd136</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd136">nstd136 (SKY-CGH)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td><strong>Total</strong></td><td>0</td><td></td><td>0</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd137">nstd137</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd137">nstd137 (Huddleston et al. 2016)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>12109</td><td>deletion</td><td>12109</td><td><a href="/dbvar/variants/nssv13711663">nssv13711663</a></td><td><a href="/dbvar?term=%22nstd137%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd137"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>20773</td><td>insertion</td><td>22952</td><td><a href="/dbvar/variants/nssv13711667">nssv13711667</a></td><td><a href="/dbvar?term=%22nstd137%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd137"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>72</td><td>inversion</td><td>93</td><td><a href="/dbvar/variants/nssv13711296">nssv13711296</a></td><td><a href="/dbvar?term=%22nstd137%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd137"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>32954</td><td></td><td>35154</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd139">nstd139</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd139">nstd139 (Luo et al. 2019)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>copy number loss</td><td>1</td><td><a href="/dbvar/variants/nssv14038721">nssv14038721</a></td><td><a href="/dbvar?term=%22nstd139%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd139"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd140">nstd140</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd140">nstd140 (Fan et al. 2017)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>8787</td><td>deletion</td><td>8787</td><td><a href="/dbvar/variants/nssv14038446">nssv14038446</a></td><td><a href="/dbvar?term=%22nstd140%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd140"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>13857</td><td>insertion</td><td>13857</td><td><a href="/dbvar/variants/nssv14038445">nssv14038445</a></td><td><a href="/dbvar?term=%22nstd140%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd140"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>22644</td><td></td><td>22644</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd141">nstd141</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd141">nstd141 (Rambo-Martin et al. 2018)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>123</td><td>copy number gain</td><td>59</td><td><a href="/dbvar/variants/nssv14038720">nssv14038720</a></td><td><a href="/dbvar?term=%22nstd141%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd141"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>215</td><td><a href="/dbvar/variants/nssv14038662">nssv14038662</a></td><td><a href="/dbvar?term=%22nstd141%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd141"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>123</td><td></td><td>274</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd142">nstd142</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd142">nstd142 (Rahbari et al. 2017)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>sequence alteration</td><td>3</td><td>sequence alteration</td><td>7</td><td><a href="/dbvar/variants/nssv14038728">nssv14038728</a></td><td><a href="/dbvar?term=%22nstd142%22%5Bstudy%5D+AND+%22sequence alteration%22%5Bvariant_type%5D">"nstd142"[study] AND "sequence alteration"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>3</td><td></td><td>7</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd143">nstd143</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd143">nstd143 (Shang et al. 2017)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex substitution</td><td>1</td><td>complex substitution</td><td>1</td><td><a href="/dbvar/variants/nssv14038740">nssv14038740</a></td><td><a href="/dbvar?term=%22nstd143%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"nstd143"[study] AND "complex substitution"[variant_type]</a></td></tr>
|
|
<tr><td>copy number variation</td><td>17</td><td>deletion</td><td>8</td><td><a href="/dbvar/variants/nssv14038746">nssv14038746</a></td><td><a href="/dbvar?term=%22nstd143%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd143"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>9</td><td><a href="/dbvar/variants/nssv14038745">nssv14038745</a></td><td><a href="/dbvar?term=%22nstd143%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd143"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>18</td><td></td><td>18</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd144">nstd144</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd144">nstd144 (Gardner et al. 2017)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>3142</td><td>alu deletion</td><td>2937</td><td><a href="/dbvar/variants/nssv14063478">nssv14063478</a></td><td><a href="/dbvar?term=%22nstd144%22%5Bstudy%5D+AND+%22alu deletion%22%5Bvariant_type%5D">"nstd144"[study] AND "alu deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 deletion</td><td>205</td><td><a href="/dbvar/variants/nssv14063405">nssv14063405</a></td><td><a href="/dbvar?term=%22nstd144%22%5Bstudy%5D+AND+%22line1 deletion%22%5Bvariant_type%5D">"nstd144"[study] AND "line1 deletion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element insertion</td><td>34656</td><td>alu insertion</td><td>25573</td><td><a href="/dbvar/variants/nssv14081900">nssv14081900</a></td><td><a href="/dbvar?term=%22nstd144%22%5Bstudy%5D+AND+%22alu insertion%22%5Bvariant_type%5D">"nstd144"[study] AND "alu insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 insertion</td><td>8610</td><td><a href="/dbvar/variants/nssv14081904">nssv14081904</a></td><td><a href="/dbvar?term=%22nstd144%22%5Bstudy%5D+AND+%22line1 insertion%22%5Bvariant_type%5D">"nstd144"[study] AND "line1 insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva insertion</td><td>1097</td><td><a href="/dbvar/variants/nssv14081779">nssv14081779</a></td><td><a href="/dbvar?term=%22nstd144%22%5Bstudy%5D+AND+%22sva insertion%22%5Bvariant_type%5D">"nstd144"[study] AND "sva insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>37798</td><td></td><td>38422</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd145">nstd145</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd145">nstd145 (Lu et al. 2017)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>8237</td><td>deletion</td><td>25186</td><td><a href="/dbvar/variants/nssv14109454">nssv14109454</a></td><td><a href="/dbvar?term=%22nstd145%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd145"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>1731</td><td><a href="/dbvar/variants/nssv14109440">nssv14109440</a></td><td><a href="/dbvar?term=%22nstd145%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd145"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>8237</td><td></td><td>26917</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd149">nstd149</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd149">nstd149 (Gambin et al. 2017)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>36</td><td>copy number loss</td><td>41</td><td><a href="/dbvar/variants/nssv14109495">nssv14109495</a></td><td><a href="/dbvar?term=%22nstd149%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd149"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>36</td><td></td><td>41</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd151">nstd151</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd151">nstd151 (Exome Aggregation Consortium CNVs)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>49339</td><td>copy number gain</td><td>77362</td><td><a href="/dbvar/variants/nssv14236267">nssv14236267</a></td><td><a href="/dbvar?term=%22nstd151%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd151"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>49409</td><td><a href="/dbvar/variants/nssv14236268">nssv14236268</a></td><td><a href="/dbvar?term=%22nstd151%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd151"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>49339</td><td></td><td>126771</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd152">nstd152</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd152">nstd152 (Chaisson et al. 2019)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex substitution</td><td>15021</td><td>complex substitution</td><td>19549</td><td><a href="/dbvar/variants/nssv14467591">nssv14467591</a></td><td><a href="/dbvar?term=%22nstd152%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"nstd152"[study] AND "complex substitution"[variant_type]</a></td></tr>
|
|
<tr><td>copy number variation</td><td>37103</td><td>copy number variation</td><td>675</td><td><a href="/dbvar/variants/nssv14392553">nssv14392553</a></td><td><a href="/dbvar?term=%22nstd152%22%5Bstudy%5D+AND+%22copy number variation%22%5Bvariant_type%5D">"nstd152"[study] AND "copy number variation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>80281</td><td><a href="/dbvar/variants/nssv14467590">nssv14467590</a></td><td><a href="/dbvar?term=%22nstd152%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd152"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>9243</td><td><a href="/dbvar/variants/nssv14392572">nssv14392572</a></td><td><a href="/dbvar?term=%22nstd152%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd152"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>34439</td><td>insertion</td><td>62457</td><td><a href="/dbvar/variants/nssv14467585">nssv14467585</a></td><td><a href="/dbvar?term=%22nstd152%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd152"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>475</td><td>inversion</td><td>1968</td><td><a href="/dbvar/variants/nssv14467594">nssv14467594</a></td><td><a href="/dbvar?term=%22nstd152%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd152"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element deletion</td><td>6369</td><td>alu deletion</td><td>14733</td><td><a href="/dbvar/variants/nssv14467593">nssv14467593</a></td><td><a href="/dbvar?term=%22nstd152%22%5Bstudy%5D+AND+%22alu deletion%22%5Bvariant_type%5D">"nstd152"[study] AND "alu deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>herv deletion</td><td>110</td><td><a href="/dbvar/variants/nssv14466872">nssv14466872</a></td><td><a href="/dbvar?term=%22nstd152%22%5Bstudy%5D+AND+%22herv deletion%22%5Bvariant_type%5D">"nstd152"[study] AND "herv deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 deletion</td><td>1896</td><td><a href="/dbvar/variants/nssv14467533">nssv14467533</a></td><td><a href="/dbvar?term=%22nstd152%22%5Bstudy%5D+AND+%22line1 deletion%22%5Bvariant_type%5D">"nstd152"[study] AND "line1 deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>mobile element deletion</td><td>584</td><td><a href="/dbvar/variants/nssv14467576">nssv14467576</a></td><td><a href="/dbvar?term=%22nstd152%22%5Bstudy%5D+AND+%22mobile element deletion%22%5Bvariant_type%5D">"nstd152"[study] AND "mobile element deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva deletion</td><td>420</td><td><a href="/dbvar/variants/nssv14467534">nssv14467534</a></td><td><a href="/dbvar?term=%22nstd152%22%5Bstudy%5D+AND+%22sva deletion%22%5Bvariant_type%5D">"nstd152"[study] AND "sva deletion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element insertion</td><td>9318</td><td>alu insertion</td><td>15763</td><td><a href="/dbvar/variants/nssv14467531">nssv14467531</a></td><td><a href="/dbvar?term=%22nstd152%22%5Bstudy%5D+AND+%22alu insertion%22%5Bvariant_type%5D">"nstd152"[study] AND "alu insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>herv insertion</td><td>99</td><td><a href="/dbvar/variants/nssv14467392">nssv14467392</a></td><td><a href="/dbvar?term=%22nstd152%22%5Bstudy%5D+AND+%22herv insertion%22%5Bvariant_type%5D">"nstd152"[study] AND "herv insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 insertion</td><td>2184</td><td><a href="/dbvar/variants/nssv14467515">nssv14467515</a></td><td><a href="/dbvar?term=%22nstd152%22%5Bstudy%5D+AND+%22line1 insertion%22%5Bvariant_type%5D">"nstd152"[study] AND "line1 insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>mobile element insertion</td><td>472</td><td><a href="/dbvar/variants/nssv14467311">nssv14467311</a></td><td><a href="/dbvar?term=%22nstd152%22%5Bstudy%5D+AND+%22mobile element insertion%22%5Bvariant_type%5D">"nstd152"[study] AND "mobile element insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva insertion</td><td>1467</td><td><a href="/dbvar/variants/nssv14467055">nssv14467055</a></td><td><a href="/dbvar?term=%22nstd152%22%5Bstudy%5D+AND+%22sva insertion%22%5Bvariant_type%5D">"nstd152"[study] AND "sva insertion"[variant_type]</a></td></tr>
|
|
<tr><td>sequence alteration</td><td>1260</td><td>sequence alteration</td><td>3016</td><td><a href="/dbvar/variants/nssv14467570">nssv14467570</a></td><td><a href="/dbvar?term=%22nstd152%22%5Bstudy%5D+AND+%22sequence alteration%22%5Bvariant_type%5D">"nstd152"[study] AND "sequence alteration"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>103985</td><td></td><td>214917</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd153">nstd153</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd153">nstd153 (Szafranski et al. 2018)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>8</td><td>copy number loss</td><td>8</td><td><a href="/dbvar/variants/nssv14252587">nssv14252587</a></td><td><a href="/dbvar?term=%22nstd153%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd153"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>8</td><td></td><td>8</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd154">nstd154</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd154">nstd154 (Möller et al. 2017)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>deletion</td><td>7</td><td><a href="/dbvar/variants/nssv14236275">nssv14236275</a></td><td><a href="/dbvar?term=%22nstd154%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd154"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>7</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd155">nstd155</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd155">nstd155 (Adewoye et al. 2018)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex substitution</td><td>1</td><td>complex substitution</td><td>2502</td><td><a href="/dbvar/variants/nssv14238777">nssv14238777</a></td><td><a href="/dbvar?term=%22nstd155%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"nstd155"[study] AND "complex substitution"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>2502</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd156">nstd156</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd156">nstd156 (Fu et al. 2018)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>963</td><td>deletion</td><td>9301</td><td><a href="/dbvar/variants/nssv14252544">nssv14252544</a></td><td><a href="/dbvar?term=%22nstd156%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd156"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>2500</td><td><a href="/dbvar/variants/nssv14252541">nssv14252541</a></td><td><a href="/dbvar?term=%22nstd156%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd156"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>963</td><td></td><td>11796</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd157">nstd157</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd157">nstd157 (Frenkel et al. 2019)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1907</td><td>copy number gain</td><td>1530</td><td><a href="/dbvar/variants/nssv14471996">nssv14471996</a></td><td><a href="/dbvar?term=%22nstd157%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd157"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>2872</td><td><a href="/dbvar/variants/nssv14471995">nssv14471995</a></td><td><a href="/dbvar?term=%22nstd157%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd157"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1907</td><td></td><td>4402</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd158">nstd158</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd158">nstd158 (Cleal et al. 2019)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1013</td><td>deletion</td><td>684</td><td><a href="/dbvar/variants/nssv14240391">nssv14240391</a></td><td><a href="/dbvar?term=%22nstd158%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd158"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>329</td><td><a href="/dbvar/variants/nssv14240398">nssv14240398</a></td><td><a href="/dbvar?term=%22nstd158%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd158"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>353</td><td>inversion</td><td>353</td><td><a href="/dbvar/variants/nssv14240127">nssv14240127</a></td><td><a href="/dbvar?term=%22nstd158%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd158"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>translocation</td><td>255</td><td>interchromosomal translocation</td><td>255</td><td><a href="/dbvar/variants/nssv14240382">nssv14240382</a></td><td><a href="/dbvar?term=%22nstd158%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"nstd158"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1621</td><td></td><td>1621</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd159">nstd159</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd159">nstd159 (Kucukkilic et al. 2018)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>2</td><td>copy number variation</td><td>350</td><td><a href="/dbvar/variants/nssv14240748">nssv14240748</a></td><td><a href="/dbvar?term=%22nstd159%22%5Bstudy%5D+AND+%22copy number variation%22%5Bvariant_type%5D">"nstd159"[study] AND "copy number variation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>2</td><td></td><td>350</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd161">nstd161</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd161">nstd161 (Nazaryan-Petersen et al. 2019)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex chromosomal rearrangement</td><td>4</td><td>interchromosomal translocation</td><td>14</td><td><a href="/dbvar/variants/nssv15745562">nssv15745562</a></td><td><a href="/dbvar?term=%22nstd161%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"nstd161"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>27</td><td><a href="/dbvar/variants/nssv15745559">nssv15745559</a></td><td><a href="/dbvar?term=%22nstd161%22%5Bstudy%5D+AND+%22intrachromosomal translocation%22%5Bvariant_type%5D">"nstd161"[study] AND "intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>4</td><td></td><td>41</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd162">nstd162</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd162">nstd162 (Audano et al. 2019)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>36543</td><td>deletion</td><td>103786</td><td><a href="/dbvar/variants/nssv14812032">nssv14812032</a></td><td><a href="/dbvar?term=%22nstd162%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd162"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>9295</td><td><a href="/dbvar/variants/nssv14812023">nssv14812023</a></td><td><a href="/dbvar?term=%22nstd162%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd162"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>50249</td><td>insertion</td><td>178082</td><td><a href="/dbvar/variants/nssv14812031">nssv14812031</a></td><td><a href="/dbvar?term=%22nstd162%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd162"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>217</td><td>inversion</td><td>900</td><td><a href="/dbvar/variants/nssv14811392">nssv14811392</a></td><td><a href="/dbvar?term=%22nstd162%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd162"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element deletion</td><td>6165</td><td>alu deletion</td><td>17743</td><td><a href="/dbvar/variants/nssv14732031">nssv14732031</a></td><td><a href="/dbvar?term=%22nstd162%22%5Bstudy%5D+AND+%22alu deletion%22%5Bvariant_type%5D">"nstd162"[study] AND "alu deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>herv deletion</td><td>437</td><td><a href="/dbvar/variants/nssv14752027">nssv14752027</a></td><td><a href="/dbvar?term=%22nstd162%22%5Bstudy%5D+AND+%22herv deletion%22%5Bvariant_type%5D">"nstd162"[study] AND "herv deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 deletion</td><td>5031</td><td><a href="/dbvar/variants/nssv14811987">nssv14811987</a></td><td><a href="/dbvar?term=%22nstd162%22%5Bstudy%5D+AND+%22line1 deletion%22%5Bvariant_type%5D">"nstd162"[study] AND "line1 deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>mobile element deletion</td><td>2403</td><td><a href="/dbvar/variants/nssv14814875">nssv14814875</a></td><td><a href="/dbvar?term=%22nstd162%22%5Bstudy%5D+AND+%22mobile element deletion%22%5Bvariant_type%5D">"nstd162"[study] AND "mobile element deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva deletion</td><td>2277</td><td><a href="/dbvar/variants/nssv14814870">nssv14814870</a></td><td><a href="/dbvar?term=%22nstd162%22%5Bstudy%5D+AND+%22sva deletion%22%5Bvariant_type%5D">"nstd162"[study] AND "sva deletion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element insertion</td><td>6636</td><td>alu insertion</td><td>17333</td><td><a href="/dbvar/variants/nssv14812018">nssv14812018</a></td><td><a href="/dbvar?term=%22nstd162%22%5Bstudy%5D+AND+%22alu insertion%22%5Bvariant_type%5D">"nstd162"[study] AND "alu insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>herv insertion</td><td>376</td><td><a href="/dbvar/variants/nssv14811354">nssv14811354</a></td><td><a href="/dbvar?term=%22nstd162%22%5Bstudy%5D+AND+%22herv insertion%22%5Bvariant_type%5D">"nstd162"[study] AND "herv insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>mobile element insertion</td><td>2121</td><td><a href="/dbvar/variants/nssv14811777">nssv14811777</a></td><td><a href="/dbvar?term=%22nstd162%22%5Bstudy%5D+AND+%22mobile element insertion%22%5Bvariant_type%5D">"nstd162"[study] AND "mobile element insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva insertion</td><td>3058</td><td><a href="/dbvar/variants/nssv14811843">nssv14811843</a></td><td><a href="/dbvar?term=%22nstd162%22%5Bstudy%5D+AND+%22sva insertion%22%5Bvariant_type%5D">"nstd162"[study] AND "sva insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>99810</td><td></td><td>342842</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd163">nstd163</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd163">nstd163 (Gupta et al. 2020)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>3</td><td>deletion</td><td>8</td><td><a href="/dbvar/variants/nssv14472004">nssv14472004</a></td><td><a href="/dbvar?term=%22nstd163%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd163"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>3</td><td></td><td>8</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd164">nstd164</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd164">nstd164 (Karolak et al. 2019)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>10</td><td>copy number loss</td><td>13</td><td><a href="/dbvar/variants/nssv14814888">nssv14814888</a></td><td><a href="/dbvar?term=%22nstd164%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd164"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>10</td><td></td><td>13</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd165">nstd165</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd165">nstd165 (Bhaskaran et al. 2019)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>7</td><td>deletion</td><td>7</td><td><a href="/dbvar/variants/nssv15605715">nssv15605715</a></td><td><a href="/dbvar?term=%22nstd165%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd165"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>7</td><td></td><td>7</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd166">nstd166</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd166">nstd166 (gnomAD_Structural_Variants)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>198128</td><td>copy number variation</td><td>9710</td><td><a href="/dbvar/variants/nssv15794654">nssv15794654</a></td><td><a href="/dbvar?term=%22nstd166%22%5Bstudy%5D+AND+%22copy number variation%22%5Bvariant_type%5D">"nstd166"[study] AND "copy number variation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>155003</td><td><a href="/dbvar/variants/nssv15957826">nssv15957826</a></td><td><a href="/dbvar?term=%22nstd166%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd166"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>42047</td><td><a href="/dbvar/variants/nssv15991013">nssv15991013</a></td><td><a href="/dbvar?term=%22nstd166%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd166"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>24970</td><td>insertion</td><td>25140</td><td><a href="/dbvar/variants/nssv16091015">nssv16091015</a></td><td><a href="/dbvar?term=%22nstd166%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd166"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>700</td><td>inversion</td><td>700</td><td><a href="/dbvar/variants/nssv16091436">nssv16091436</a></td><td><a href="/dbvar?term=%22nstd166%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd166"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element insertion</td><td>76363</td><td>alu insertion</td><td>59657</td><td><a href="/dbvar/variants/nssv16091019">nssv16091019</a></td><td><a href="/dbvar?term=%22nstd166%22%5Bstudy%5D+AND+%22alu insertion%22%5Bvariant_type%5D">"nstd166"[study] AND "alu insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 insertion</td><td>9808</td><td><a href="/dbvar/variants/nssv16091021">nssv16091021</a></td><td><a href="/dbvar?term=%22nstd166%22%5Bstudy%5D+AND+%22line1 insertion%22%5Bvariant_type%5D">"nstd166"[study] AND "line1 insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>mobile element insertion</td><td>638</td><td><a href="/dbvar/variants/nssv16091016">nssv16091016</a></td><td><a href="/dbvar?term=%22nstd166%22%5Bstudy%5D+AND+%22mobile element insertion%22%5Bvariant_type%5D">"nstd166"[study] AND "mobile element insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva insertion</td><td>6306</td><td><a href="/dbvar/variants/nssv16090997">nssv16090997</a></td><td><a href="/dbvar?term=%22nstd166%22%5Bstudy%5D+AND+%22sva insertion%22%5Bvariant_type%5D">"nstd166"[study] AND "sva insertion"[variant_type]</a></td></tr>
|
|
<tr><td>sequence alteration</td><td>4572</td><td>sequence alteration</td><td>4572</td><td><a href="/dbvar/variants/nssv15791835">nssv15791835</a></td><td><a href="/dbvar?term=%22nstd166%22%5Bstudy%5D+AND+%22sequence alteration%22%5Bvariant_type%5D">"nstd166"[study] AND "sequence alteration"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>304733</td><td></td><td>313581</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd167">nstd167</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd167">nstd167 (Wenger et al. 2019)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>13434</td><td>deletion</td><td>13436</td><td><a href="/dbvar/variants/nssv15200705">nssv15200705</a></td><td><a href="/dbvar?term=%22nstd167%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd167"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>16784</td><td>insertion</td><td>17198</td><td><a href="/dbvar/variants/nssv15206220">nssv15206220</a></td><td><a href="/dbvar?term=%22nstd167%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd167"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>30218</td><td></td><td>30634</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd168">nstd168</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd168">nstd168 (Levy-Sakin et al. 2019)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex substitution</td><td>464</td><td>complex substitution</td><td>471</td><td><a href="/dbvar/variants/nssv15222631">nssv15222631</a></td><td><a href="/dbvar?term=%22nstd168%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"nstd168"[study] AND "complex substitution"[variant_type]</a></td></tr>
|
|
<tr><td>copy number variation</td><td>9153</td><td>deletion</td><td>9106</td><td><a href="/dbvar/variants/nssv15222648">nssv15222648</a></td><td><a href="/dbvar?term=%22nstd168%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd168"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>47</td><td><a href="/dbvar/variants/nssv15222517">nssv15222517</a></td><td><a href="/dbvar?term=%22nstd168%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd168"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>6495</td><td>insertion</td><td>6495</td><td><a href="/dbvar/variants/nssv15222651">nssv15222651</a></td><td><a href="/dbvar?term=%22nstd168%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd168"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>276</td><td>inversion</td><td>276</td><td><a href="/dbvar/variants/nssv15222542">nssv15222542</a></td><td><a href="/dbvar?term=%22nstd168%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd168"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>translocation</td><td>36</td><td>interchromosomal translocation</td><td>25</td><td><a href="/dbvar/variants/nssv15220351">nssv15220351</a></td><td><a href="/dbvar?term=%22nstd168%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"nstd168"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>11</td><td><a href="/dbvar/variants/nssv15222038">nssv15222038</a></td><td><a href="/dbvar?term=%22nstd168%22%5Bstudy%5D+AND+%22intrachromosomal translocation%22%5Bvariant_type%5D">"nstd168"[study] AND "intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>16424</td><td></td><td>16431</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd169">nstd169</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd169">nstd169 (Giner-Delgado et al. 2019)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>inversion</td><td>45</td><td>inversion</td><td>45</td><td><a href="/dbvar/variants/nssv15607186">nssv15607186</a></td><td><a href="/dbvar?term=%22nstd169%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd169"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>45</td><td></td><td>45</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd171">nstd171</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd171">nstd171 (Wong et al. 2019)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>4378</td><td>deletion</td><td>4378</td><td><a href="/dbvar/variants/nssv15707336">nssv15707336</a></td><td><a href="/dbvar?term=%22nstd171%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd171"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>4378</td><td></td><td>4378</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd172">nstd172</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd172">nstd172 (Deng et al. 2019)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>4659</td><td>deletion</td><td>7470</td><td><a href="/dbvar/variants/nssv15754714">nssv15754714</a></td><td><a href="/dbvar?term=%22nstd172%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd172"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>1682</td><td><a href="/dbvar/variants/nssv15754713">nssv15754713</a></td><td><a href="/dbvar?term=%22nstd172%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd172"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>4659</td><td></td><td>9152</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd173">nstd173</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd173">nstd173 (Zarrei et al. 2019)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>23548</td><td>copy number gain</td><td>42440</td><td><a href="/dbvar/variants/nssv15702958">nssv15702958</a></td><td><a href="/dbvar?term=%22nstd173%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd173"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>47976</td><td><a href="/dbvar/variants/nssv15702957">nssv15702957</a></td><td><a href="/dbvar?term=%22nstd173%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd173"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number variation</td><td>978</td><td><a href="/dbvar/variants/nssv15702860">nssv15702860</a></td><td><a href="/dbvar?term=%22nstd173%22%5Bstudy%5D+AND+%22copy number variation%22%5Bvariant_type%5D">"nstd173"[study] AND "copy number variation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>23548</td><td></td><td>91394</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd174">nstd174</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd174">nstd174 (DGV Gold Standard)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>38176</td><td>copy number gain</td><td>6209</td><td><a href="/dbvar/variants/nssv15713545">nssv15713545</a></td><td><a href="/dbvar?term=%22nstd174%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd174"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>31976</td><td><a href="/dbvar/variants/nssv15745521">nssv15745521</a></td><td><a href="/dbvar?term=%22nstd174%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd174"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>38176</td><td></td><td>38185</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd175">nstd175</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd175">nstd175 (Genome in a Bottle)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>5195</td><td>deletion</td><td>5195</td><td><a href="/dbvar/variants/nssv15768560">nssv15768560</a></td><td><a href="/dbvar?term=%22nstd175%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd175"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>delins</td><td>695</td><td>delins</td><td>695</td><td><a href="/dbvar/variants/nssv15768473">nssv15768473</a></td><td><a href="/dbvar?term=%22nstd175%22%5Bstudy%5D+AND+%22delins%22%5Bvariant_type%5D">"nstd175"[study] AND "delins"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>6855</td><td>insertion</td><td>6855</td><td><a href="/dbvar/variants/nssv15768573">nssv15768573</a></td><td><a href="/dbvar?term=%22nstd175%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd175"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>12745</td><td></td><td>12745</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd177">nstd177</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd177">nstd177 (Louzada et al. 2020)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>22</td><td>deletion</td><td>10</td><td><a href="/dbvar/variants/nssv15768589">nssv15768589</a></td><td><a href="/dbvar?term=%22nstd177%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd177"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>13</td><td><a href="/dbvar/variants/nssv15768602">nssv15768602</a></td><td><a href="/dbvar?term=%22nstd177%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd177"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>22</td><td></td><td>23</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd178">nstd178</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd178">nstd178 (Karolak et al. 2020)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>copy number loss</td><td>1</td><td><a href="/dbvar/variants/nssv15768603">nssv15768603</a></td><td><a href="/dbvar?term=%22nstd178%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd178"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd179">nstd179</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd179">nstd179 (Bertuzzi et al. 2020)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>deletion</td><td>1</td><td><a href="/dbvar/variants/nssv16091441">nssv16091441</a></td><td><a href="/dbvar?term=%22nstd179%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd179"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd180">nstd180</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd180">nstd180 (Levchenko et al. 2020)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>deletion</td><td>1</td><td><a href="/dbvar/variants/nssv16091660">nssv16091660</a></td><td><a href="/dbvar?term=%22nstd180%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd180"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd181">nstd181</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd181">nstd181 (Alcoverro et al. 2020)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>deletion</td><td>2</td><td><a href="/dbvar/variants/nssv16091768">nssv16091768</a></td><td><a href="/dbvar?term=%22nstd181%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd181"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>2</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd182">nstd182</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd182">nstd182 (Al-Mubarak et al. 2020)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>5</td><td>copy number gain</td><td>2</td><td><a href="/dbvar/variants/nssv16091772">nssv16091772</a></td><td><a href="/dbvar?term=%22nstd182%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd182"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>3</td><td><a href="/dbvar/variants/nssv16091773">nssv16091773</a></td><td><a href="/dbvar?term=%22nstd182%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd182"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>5</td><td></td><td>5</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd183">nstd183</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd183">nstd183 (DECIPHER Consensus CNVs)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>55675</td><td>deletion</td><td>42513</td><td><a href="/dbvar/variants/nssv16154039">nssv16154039</a></td><td><a href="/dbvar?term=%22nstd183%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd183"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>19561</td><td><a href="/dbvar/variants/nssv16154037">nssv16154037</a></td><td><a href="/dbvar?term=%22nstd183%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd183"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>55675</td><td></td><td>62074</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd184">nstd184</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd184">nstd184 (Gomez et al. 2020)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>copy number loss</td><td>1</td><td><a href="/dbvar/variants/nssv16154040">nssv16154040</a></td><td><a href="/dbvar?term=%22nstd184%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd184"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd185">nstd185</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd185">nstd185 (Puig et al. 2020)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>deletion</td><td>1</td><td><a href="/dbvar/variants/nssv16181389">nssv16181389</a></td><td><a href="/dbvar?term=%22nstd185%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd185"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>18</td><td>inversion</td><td>18</td><td><a href="/dbvar/variants/nssv16181401">nssv16181401</a></td><td><a href="/dbvar?term=%22nstd185%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd185"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>19</td><td></td><td>19</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd186">nstd186</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd186">nstd186 (NCBI Curated Common Structural Variants)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>63566</td><td>copy number gain</td><td>430</td><td><a href="/dbvar/variants/nssv16206451">nssv16206451</a></td><td><a href="/dbvar?term=%22nstd186%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd186"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>335</td><td><a href="/dbvar/variants/nssv16201745">nssv16201745</a></td><td><a href="/dbvar?term=%22nstd186%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd186"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number variation</td><td>5730</td><td><a href="/dbvar/variants/nssv17968517">nssv17968517</a></td><td><a href="/dbvar?term=%22nstd186%22%5Bstudy%5D+AND+%22copy number variation%22%5Bvariant_type%5D">"nstd186"[study] AND "copy number variation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>60280</td><td><a href="/dbvar/variants/nssv17968567">nssv17968567</a></td><td><a href="/dbvar?term=%22nstd186%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd186"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>12326</td><td><a href="/dbvar/variants/nssv17968562">nssv17968562</a></td><td><a href="/dbvar?term=%22nstd186%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd186"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>12292</td><td>insertion</td><td>12806</td><td><a href="/dbvar/variants/nssv17968565">nssv17968565</a></td><td><a href="/dbvar?term=%22nstd186%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd186"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element deletion</td><td>3749</td><td>alu deletion</td><td>4874</td><td><a href="/dbvar/variants/nssv16888762">nssv16888762</a></td><td><a href="/dbvar?term=%22nstd186%22%5Bstudy%5D+AND+%22alu deletion%22%5Bvariant_type%5D">"nstd186"[study] AND "alu deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>herv deletion</td><td>1</td><td><a href="/dbvar/variants/nssv16193961">nssv16193961</a></td><td><a href="/dbvar?term=%22nstd186%22%5Bstudy%5D+AND+%22herv deletion%22%5Bvariant_type%5D">"nstd186"[study] AND "herv deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 deletion</td><td>585</td><td><a href="/dbvar/variants/nssv16888760">nssv16888760</a></td><td><a href="/dbvar?term=%22nstd186%22%5Bstudy%5D+AND+%22line1 deletion%22%5Bvariant_type%5D">"nstd186"[study] AND "line1 deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>mobile element deletion</td><td>43</td><td><a href="/dbvar/variants/nssv17968248">nssv17968248</a></td><td><a href="/dbvar?term=%22nstd186%22%5Bstudy%5D+AND+%22mobile element deletion%22%5Bvariant_type%5D">"nstd186"[study] AND "mobile element deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva deletion</td><td>173</td><td><a href="/dbvar/variants/nssv16888721">nssv16888721</a></td><td><a href="/dbvar?term=%22nstd186%22%5Bstudy%5D+AND+%22sva deletion%22%5Bvariant_type%5D">"nstd186"[study] AND "sva deletion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element insertion</td><td>13327</td><td>alu insertion</td><td>11380</td><td><a href="/dbvar/variants/nssv17968566">nssv17968566</a></td><td><a href="/dbvar?term=%22nstd186%22%5Bstudy%5D+AND+%22alu insertion%22%5Bvariant_type%5D">"nstd186"[study] AND "alu insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 insertion</td><td>1441</td><td><a href="/dbvar/variants/nssv17968250">nssv17968250</a></td><td><a href="/dbvar?term=%22nstd186%22%5Bstudy%5D+AND+%22line1 insertion%22%5Bvariant_type%5D">"nstd186"[study] AND "line1 insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>mobile element insertion</td><td>57</td><td><a href="/dbvar/variants/nssv17968337">nssv17968337</a></td><td><a href="/dbvar?term=%22nstd186%22%5Bstudy%5D+AND+%22mobile element insertion%22%5Bvariant_type%5D">"nstd186"[study] AND "mobile element insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva insertion</td><td>758</td><td><a href="/dbvar/variants/nssv17968334">nssv17968334</a></td><td><a href="/dbvar?term=%22nstd186%22%5Bstudy%5D+AND+%22sva insertion%22%5Bvariant_type%5D">"nstd186"[study] AND "sva insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>92934</td><td></td><td>111219</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd187">nstd187</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd187">nstd187 (Hughes et al. 2020)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>copy number variation</td><td>142</td><td><a href="/dbvar/variants/nssv16215031">nssv16215031</a></td><td><a href="/dbvar?term=%22nstd187%22%5Bstudy%5D+AND+%22copy number variation%22%5Bvariant_type%5D">"nstd187"[study] AND "copy number variation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>142</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd189">nstd189</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd189">nstd189 (Pérez-Palma et al. 2020)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>2181</td><td>deletion</td><td>658</td><td><a href="/dbvar/variants/nssv16211527">nssv16211527</a></td><td><a href="/dbvar?term=%22nstd189%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd189"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>1840</td><td><a href="/dbvar/variants/nssv16211533">nssv16211533</a></td><td><a href="/dbvar?term=%22nstd189%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd189"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>2181</td><td></td><td>2498</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd190">nstd190</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd190">nstd190 (Williams et al. 2020)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>241</td><td>deletion</td><td>241</td><td><a href="/dbvar/variants/nssv16211774">nssv16211774</a></td><td><a href="/dbvar?term=%22nstd190%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd190"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>241</td><td></td><td>241</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd191">nstd191</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd191">nstd191 (Dai et al. 2021)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>inversion</td><td>1</td><td>inversion</td><td>1</td><td><a href="/dbvar/variants/nssv16214889">nssv16214889</a></td><td><a href="/dbvar?term=%22nstd191%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd191"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd192">nstd192</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd192">nstd192 (Smajlagic et al. 2020)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>35</td><td>deletion</td><td>25</td><td><a href="/dbvar/variants/nssv16215387">nssv16215387</a></td><td><a href="/dbvar?term=%22nstd192%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd192"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>34</td><td><a href="/dbvar/variants/nssv16215371">nssv16215371</a></td><td><a href="/dbvar?term=%22nstd192%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd192"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>35</td><td></td><td>59</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd193">nstd193</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd193">nstd193 (Teekakirikul et al. 2021)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>deletion</td><td>5</td><td><a href="/dbvar/variants/nssv16215106">nssv16215106</a></td><td><a href="/dbvar?term=%22nstd193%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd193"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>5</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd194">nstd194</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd194">nstd194 (Lee et al. 2020)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>insertion</td><td>1114</td><td>insertion</td><td>1114</td><td><a href="/dbvar/variants/nssv16216501">nssv16216501</a></td><td><a href="/dbvar?term=%22nstd194%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd194"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1114</td><td></td><td>1114</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd195">nstd195</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd195">nstd195 (Mwapagha et al. 2021)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>12955</td><td>copy number variation</td><td>5370</td><td><a href="/dbvar/variants/nssv16252130">nssv16252130</a></td><td><a href="/dbvar?term=%22nstd195%22%5Bstudy%5D+AND+%22copy number variation%22%5Bvariant_type%5D">"nstd195"[study] AND "copy number variation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>12289</td><td><a href="/dbvar/variants/nssv16252128">nssv16252128</a></td><td><a href="/dbvar?term=%22nstd195%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd195"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>19</td><td>insertion</td><td>19</td><td><a href="/dbvar/variants/nssv16250380">nssv16250380</a></td><td><a href="/dbvar?term=%22nstd195%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd195"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>450</td><td>inversion</td><td>500</td><td><a href="/dbvar/variants/nssv16252085">nssv16252085</a></td><td><a href="/dbvar?term=%22nstd195%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd195"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>tandem duplication</td><td>226</td><td>tandem duplication</td><td>230</td><td><a href="/dbvar/variants/nssv16251834">nssv16251834</a></td><td><a href="/dbvar?term=%22nstd195%22%5Bstudy%5D+AND+%22tandem duplication%22%5Bvariant_type%5D">"nstd195"[study] AND "tandem duplication"[variant_type]</a></td></tr>
|
|
<tr><td>translocation</td><td>1100</td><td>interchromosomal translocation</td><td>1100</td><td><a href="/dbvar/variants/nssv16252120">nssv16252120</a></td><td><a href="/dbvar?term=%22nstd195%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"nstd195"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>14750</td><td></td><td>19508</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd197">nstd197</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd197">nstd197 (Boujemaa et al. 2021)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>280</td><td>copy number gain</td><td>159</td><td><a href="/dbvar/variants/nssv16253895">nssv16253895</a></td><td><a href="/dbvar?term=%22nstd197%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd197"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>324</td><td><a href="/dbvar/variants/nssv16253893">nssv16253893</a></td><td><a href="/dbvar?term=%22nstd197%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd197"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>280</td><td></td><td>483</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd198">nstd198</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd198">nstd198 (Hanlon et al. 2021)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>inversion</td><td>234</td><td>inversion</td><td>3053</td><td><a href="/dbvar/variants/nssv16258891">nssv16258891</a></td><td><a href="/dbvar?term=%22nstd198%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd198"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>234</td><td></td><td>3053</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd199">nstd199</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd199">nstd199 (Quan et al. 2021)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>20162</td><td>deletion</td><td>19441</td><td><a href="/dbvar/variants/nssv16296918">nssv16296918</a></td><td><a href="/dbvar?term=%22nstd199%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd199"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>721</td><td><a href="/dbvar/variants/nssv16296897">nssv16296897</a></td><td><a href="/dbvar?term=%22nstd199%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd199"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>17423</td><td>insertion</td><td>17424</td><td><a href="/dbvar/variants/nssv16296919">nssv16296919</a></td><td><a href="/dbvar?term=%22nstd199%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd199"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>442</td><td>inversion</td><td>442</td><td><a href="/dbvar/variants/nssv16296837">nssv16296837</a></td><td><a href="/dbvar?term=%22nstd199%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd199"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>38027</td><td></td><td>38028</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd200">nstd200</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd200">nstd200 (Abel et al. 2020)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>238145</td><td>deletion</td><td>193996</td><td><a href="/dbvar/variants/nssv16592164">nssv16592164</a></td><td><a href="/dbvar?term=%22nstd200%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd200"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>44149</td><td><a href="/dbvar/variants/nssv16595971">nssv16595971</a></td><td><a href="/dbvar?term=%22nstd200%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd200"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>1703</td><td>inversion</td><td>1703</td><td><a href="/dbvar/variants/nssv16596187">nssv16596187</a></td><td><a href="/dbvar?term=%22nstd200%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd200"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element deletion</td><td>8093</td><td>alu deletion</td><td>7038</td><td><a href="/dbvar/variants/nssv16592047">nssv16592047</a></td><td><a href="/dbvar?term=%22nstd200%22%5Bstudy%5D+AND+%22alu deletion%22%5Bvariant_type%5D">"nstd200"[study] AND "alu deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 deletion</td><td>859</td><td><a href="/dbvar/variants/nssv16591979">nssv16591979</a></td><td><a href="/dbvar?term=%22nstd200%22%5Bstudy%5D+AND+%22line1 deletion%22%5Bvariant_type%5D">"nstd200"[study] AND "line1 deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva deletion</td><td>196</td><td><a href="/dbvar/variants/nssv16589861">nssv16589861</a></td><td><a href="/dbvar?term=%22nstd200%22%5Bstudy%5D+AND+%22sva deletion%22%5Bvariant_type%5D">"nstd200"[study] AND "sva deletion"[variant_type]</a></td></tr>
|
|
<tr><td>translocation</td><td>51151</td><td>interchromosomal translocation</td><td>3109</td><td><a href="/dbvar/variants/nssv16596109">nssv16596109</a></td><td><a href="/dbvar?term=%22nstd200%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"nstd200"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>48042</td><td><a href="/dbvar/variants/nssv16596258">nssv16596258</a></td><td><a href="/dbvar?term=%22nstd200%22%5Bstudy%5D+AND+%22intrachromosomal translocation%22%5Bvariant_type%5D">"nstd200"[study] AND "intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>299092</td><td></td><td>299092</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd201">nstd201</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd201">nstd201 (Favilla et al. 2021)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>4</td><td>copy number gain</td><td>1</td><td><a href="/dbvar/variants/nssv16297004">nssv16297004</a></td><td><a href="/dbvar?term=%22nstd201%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd201"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>3</td><td><a href="/dbvar/variants/nssv16297007">nssv16297007</a></td><td><a href="/dbvar?term=%22nstd201%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd201"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>4</td><td></td><td>4</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd202">nstd202</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd202">nstd202 (Ghazali et al. 2021)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>2</td><td>copy number gain</td><td>1</td><td><a href="/dbvar/variants/nssv16596260">nssv16596260</a></td><td><a href="/dbvar?term=%22nstd202%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd202"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>1</td><td><a href="/dbvar/variants/nssv16596259">nssv16596259</a></td><td><a href="/dbvar?term=%22nstd202%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd202"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>2</td><td></td><td>2</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd203">nstd203</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd203">nstd203 (Borges-Monroy et al. 2021)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>mobile element insertion</td><td>140215</td><td>alu insertion</td><td>113439</td><td><a href="/dbvar/variants/nssv16736560">nssv16736560</a></td><td><a href="/dbvar?term=%22nstd203%22%5Bstudy%5D+AND+%22alu insertion%22%5Bvariant_type%5D">"nstd203"[study] AND "alu insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 insertion</td><td>18602</td><td><a href="/dbvar/variants/nssv16736559">nssv16736559</a></td><td><a href="/dbvar?term=%22nstd203%22%5Bstudy%5D+AND+%22line1 insertion%22%5Bvariant_type%5D">"nstd203"[study] AND "line1 insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva insertion</td><td>8174</td><td><a href="/dbvar/variants/nssv16736447">nssv16736447</a></td><td><a href="/dbvar?term=%22nstd203%22%5Bstudy%5D+AND+%22sva insertion%22%5Bvariant_type%5D">"nstd203"[study] AND "sva insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>140215</td><td></td><td>140215</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd204">nstd204</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd204">nstd204 (Chen et al. 2021)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>121310</td><td>copy number variation</td><td>93453</td><td><a href="/dbvar/variants/nssv16865862">nssv16865862</a></td><td><a href="/dbvar?term=%22nstd204%22%5Bstudy%5D+AND+%22copy number variation%22%5Bvariant_type%5D">"nstd204"[study] AND "copy number variation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>22856</td><td><a href="/dbvar/variants/nssv16865846">nssv16865846</a></td><td><a href="/dbvar?term=%22nstd204%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd204"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>5002</td><td><a href="/dbvar/variants/nssv16756689">nssv16756689</a></td><td><a href="/dbvar?term=%22nstd204%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd204"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>187</td><td>inversion</td><td>187</td><td><a href="/dbvar/variants/nssv16756567">nssv16756567</a></td><td><a href="/dbvar?term=%22nstd204%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd204"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element deletion</td><td>3331</td><td>alu deletion</td><td>2955</td><td><a href="/dbvar/variants/nssv16865705">nssv16865705</a></td><td><a href="/dbvar?term=%22nstd204%22%5Bstudy%5D+AND+%22alu deletion%22%5Bvariant_type%5D">"nstd204"[study] AND "alu deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 deletion</td><td>281</td><td><a href="/dbvar/variants/nssv16861591">nssv16861591</a></td><td><a href="/dbvar?term=%22nstd204%22%5Bstudy%5D+AND+%22line1 deletion%22%5Bvariant_type%5D">"nstd204"[study] AND "line1 deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva deletion</td><td>95</td><td><a href="/dbvar/variants/nssv16776425">nssv16776425</a></td><td><a href="/dbvar?term=%22nstd204%22%5Bstudy%5D+AND+%22sva deletion%22%5Bvariant_type%5D">"nstd204"[study] AND "sva deletion"[variant_type]</a></td></tr>
|
|
<tr><td>translocation</td><td>4337</td><td>interchromosomal translocation</td><td>282</td><td><a href="/dbvar/variants/nssv16776399">nssv16776399</a></td><td><a href="/dbvar?term=%22nstd204%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"nstd204"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>4055</td><td><a href="/dbvar/variants/nssv16776682">nssv16776682</a></td><td><a href="/dbvar?term=%22nstd204%22%5Bstudy%5D+AND+%22intrachromosomal translocation%22%5Bvariant_type%5D">"nstd204"[study] AND "intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>129165</td><td></td><td>129166</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd205">nstd205</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd205">nstd205 (Kwong et al. 2021)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>15</td><td>deletion</td><td>13</td><td><a href="/dbvar/variants/nssv16736576">nssv16736576</a></td><td><a href="/dbvar?term=%22nstd205%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd205"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>2</td><td><a href="/dbvar/variants/nssv16736566">nssv16736566</a></td><td><a href="/dbvar?term=%22nstd205%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd205"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>delins</td><td>1</td><td>delins</td><td>1</td><td><a href="/dbvar/variants/nssv16736573">nssv16736573</a></td><td><a href="/dbvar?term=%22nstd205%22%5Bstudy%5D+AND+%22delins%22%5Bvariant_type%5D">"nstd205"[study] AND "delins"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>16</td><td></td><td>16</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd206">nstd206</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd206">nstd206 (Byrska-Bishop et al. 2022)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>118995</td><td>copy number variation</td><td>673</td><td><a href="/dbvar/variants/nssv17743019">nssv17743019</a></td><td><a href="/dbvar?term=%22nstd206%22%5Bstudy%5D+AND+%22copy number variation%22%5Bvariant_type%5D">"nstd206"[study] AND "copy number variation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>90102</td><td><a href="/dbvar/variants/nssv17743020">nssv17743020</a></td><td><a href="/dbvar?term=%22nstd206%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd206"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>28242</td><td><a href="/dbvar/variants/nssv17742999">nssv17742999</a></td><td><a href="/dbvar?term=%22nstd206%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd206"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>15601</td><td>insertion</td><td>15601</td><td><a href="/dbvar/variants/nssv17743016">nssv17743016</a></td><td><a href="/dbvar?term=%22nstd206%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd206"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>919</td><td>inversion</td><td>919</td><td><a href="/dbvar/variants/nssv17742846">nssv17742846</a></td><td><a href="/dbvar?term=%22nstd206%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd206"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element deletion</td><td>157</td><td>mobile element deletion</td><td>157</td><td><a href="/dbvar/variants/nssv17742657">nssv17742657</a></td><td><a href="/dbvar?term=%22nstd206%22%5Bstudy%5D+AND+%22mobile element deletion%22%5Bvariant_type%5D">"nstd206"[study] AND "mobile element deletion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element insertion</td><td>34092</td><td>alu insertion</td><td>29036</td><td><a href="/dbvar/variants/nssv17742953">nssv17742953</a></td><td><a href="/dbvar?term=%22nstd206%22%5Bstudy%5D+AND+%22alu insertion%22%5Bvariant_type%5D">"nstd206"[study] AND "alu insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 insertion</td><td>2967</td><td><a href="/dbvar/variants/nssv17742795">nssv17742795</a></td><td><a href="/dbvar?term=%22nstd206%22%5Bstudy%5D+AND+%22line1 insertion%22%5Bvariant_type%5D">"nstd206"[study] AND "line1 insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>mobile element insertion</td><td>106</td><td><a href="/dbvar/variants/nssv17742788">nssv17742788</a></td><td><a href="/dbvar?term=%22nstd206%22%5Bstudy%5D+AND+%22mobile element insertion%22%5Bvariant_type%5D">"nstd206"[study] AND "mobile element insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva insertion</td><td>1983</td><td><a href="/dbvar/variants/nssv17742622">nssv17742622</a></td><td><a href="/dbvar?term=%22nstd206%22%5Bstudy%5D+AND+%22sva insertion%22%5Bvariant_type%5D">"nstd206"[study] AND "sva insertion"[variant_type]</a></td></tr>
|
|
<tr><td>sequence alteration</td><td>3568</td><td>sequence alteration</td><td>3568</td><td><a href="/dbvar/variants/nssv17742967">nssv17742967</a></td><td><a href="/dbvar?term=%22nstd206%22%5Bstudy%5D+AND+%22sequence alteration%22%5Bvariant_type%5D">"nstd206"[study] AND "sequence alteration"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>173332</td><td></td><td>173354</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd207">nstd207</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd207">nstd207 (Ebert et al. 2021)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>43150</td><td>deletion</td><td>43150</td><td><a href="/dbvar/variants/nssv17171352">nssv17171352</a></td><td><a href="/dbvar?term=%22nstd207%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd207"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>64430</td><td>insertion</td><td>68180</td><td><a href="/dbvar/variants/nssv17171356">nssv17171356</a></td><td><a href="/dbvar?term=%22nstd207%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd207"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>416</td><td>inversion</td><td>416</td><td><a href="/dbvar/variants/nssv17171152">nssv17171152</a></td><td><a href="/dbvar?term=%22nstd207%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd207"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>107996</td><td></td><td>111746</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd208">nstd208</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd208">nstd208 (Si et al. 2022)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>2</td><td>deletion</td><td>2</td><td><a href="/dbvar/variants/nssv16865864">nssv16865864</a></td><td><a href="/dbvar?term=%22nstd208%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd208"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>2</td><td></td><td>2</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd209">nstd209</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd209">nstd209 (Almarri et al. 2020)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>125835</td><td>copy number variation</td><td>65432</td><td><a href="/dbvar/variants/nssv17517434">nssv17517434</a></td><td><a href="/dbvar?term=%22nstd209%22%5Bstudy%5D+AND+%22copy number variation%22%5Bvariant_type%5D">"nstd209"[study] AND "copy number variation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>68098</td><td><a href="/dbvar/variants/nssv17469633">nssv17469633</a></td><td><a href="/dbvar?term=%22nstd209%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd209"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>7290</td><td><a href="/dbvar/variants/nssv17469613">nssv17469613</a></td><td><a href="/dbvar?term=%22nstd209%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd209"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>25084</td><td>insertion</td><td>25084</td><td><a href="/dbvar/variants/nssv17469618">nssv17469618</a></td><td><a href="/dbvar?term=%22nstd209%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd209"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>1895</td><td>inversion</td><td>1895</td><td><a href="/dbvar/variants/nssv17469222">nssv17469222</a></td><td><a href="/dbvar?term=%22nstd209%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd209"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>152814</td><td></td><td>167799</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd211">nstd211</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd211">nstd211 (Chuang et al. 2021)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>mobile element insertion</td><td>56732</td><td>alu insertion</td><td>59609</td><td><a href="/dbvar/variants/nssv17233320">nssv17233320</a></td><td><a href="/dbvar?term=%22nstd211%22%5Bstudy%5D+AND+%22alu insertion%22%5Bvariant_type%5D">"nstd211"[study] AND "alu insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>herv insertion</td><td>129</td><td><a href="/dbvar/variants/nssv17233192">nssv17233192</a></td><td><a href="/dbvar?term=%22nstd211%22%5Bstudy%5D+AND+%22herv insertion%22%5Bvariant_type%5D">"nstd211"[study] AND "herv insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 insertion</td><td>14235</td><td><a href="/dbvar/variants/nssv17253140">nssv17253140</a></td><td><a href="/dbvar?term=%22nstd211%22%5Bstudy%5D+AND+%22line1 insertion%22%5Bvariant_type%5D">"nstd211"[study] AND "line1 insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva insertion</td><td>5847</td><td><a href="/dbvar/variants/nssv17253141">nssv17253141</a></td><td><a href="/dbvar?term=%22nstd211%22%5Bstudy%5D+AND+%22sva insertion%22%5Bvariant_type%5D">"nstd211"[study] AND "sva insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>56732</td><td></td><td>79820</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd212">nstd212</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd212">nstd212 (Wu et al. 2021)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>71361</td><td>deletion</td><td>67405</td><td><a href="/dbvar/variants/nssv17649848">nssv17649848</a></td><td><a href="/dbvar?term=%22nstd212%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd212"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>3956</td><td><a href="/dbvar/variants/nssv17649804">nssv17649804</a></td><td><a href="/dbvar?term=%22nstd212%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd212"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>60068</td><td>insertion</td><td>60182</td><td><a href="/dbvar/variants/nssv17649849">nssv17649849</a></td><td><a href="/dbvar?term=%22nstd212%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd212"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>769</td><td>inversion</td><td>769</td><td><a href="/dbvar/variants/nssv17649817">nssv17649817</a></td><td><a href="/dbvar?term=%22nstd212%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd212"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>132198</td><td></td><td>132312</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd213">nstd213</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd213">nstd213 (Pham et al. 2021)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>5408</td><td>copy number gain</td><td>2791</td><td><a href="/dbvar/variants/nssv17683352">nssv17683352</a></td><td><a href="/dbvar?term=%22nstd213%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd213"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>2276</td><td><a href="/dbvar/variants/nssv17683354">nssv17683354</a></td><td><a href="/dbvar?term=%22nstd213%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd213"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>252</td><td><a href="/dbvar/variants/nssv17683408">nssv17683408</a></td><td><a href="/dbvar?term=%22nstd213%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd213"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>161</td><td><a href="/dbvar/variants/nssv17683404">nssv17683404</a></td><td><a href="/dbvar?term=%22nstd213%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd213"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>84</td><td>inversion</td><td>84</td><td><a href="/dbvar/variants/nssv17683401">nssv17683401</a></td><td><a href="/dbvar?term=%22nstd213%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd213"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>translocation</td><td>372</td><td>interchromosomal translocation</td><td>112</td><td><a href="/dbvar/variants/nssv17683389">nssv17683389</a></td><td><a href="/dbvar?term=%22nstd213%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"nstd213"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>260</td><td><a href="/dbvar/variants/nssv17683376">nssv17683376</a></td><td><a href="/dbvar?term=%22nstd213%22%5Bstudy%5D+AND+%22intrachromosomal translocation%22%5Bvariant_type%5D">"nstd213"[study] AND "intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>5864</td><td></td><td>5936</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd214">nstd214</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd214">nstd214 (Naslavsky et al. 2022)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>70496</td><td>deletion</td><td>70496</td><td><a href="/dbvar/variants/nssv17955464">nssv17955464</a></td><td><a href="/dbvar?term=%22nstd214%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd214"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>19323</td><td>insertion</td><td>24733</td><td><a href="/dbvar/variants/nssv17955461">nssv17955461</a></td><td><a href="/dbvar?term=%22nstd214%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"nstd214"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>89819</td><td></td><td>95229</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd215">nstd215</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd215">nstd215 (Prakrithi et al. 2022)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>mobile element insertion</td><td>21981</td><td>alu insertion</td><td>21981</td><td><a href="/dbvar/variants/nssv17860230">nssv17860230</a></td><td><a href="/dbvar?term=%22nstd215%22%5Bstudy%5D+AND+%22alu insertion%22%5Bvariant_type%5D">"nstd215"[study] AND "alu insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>21981</td><td></td><td>21981</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd217">nstd217</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd217">nstd217 (Zhang et al. 2022)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>sequence alteration</td><td>1</td><td>sequence alteration</td><td>1</td><td><a href="/dbvar/variants/nssv17955694">nssv17955694</a></td><td><a href="/dbvar?term=%22nstd217%22%5Bstudy%5D+AND+%22sequence alteration%22%5Bvariant_type%5D">"nstd217"[study] AND "sequence alteration"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd218">nstd218</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd218">nstd218 (Wijesiriwardhana et al. 2021)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>103</td><td>copy number gain</td><td>70</td><td><a href="/dbvar/variants/nssv17955798">nssv17955798</a></td><td><a href="/dbvar?term=%22nstd218%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd218"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>35</td><td><a href="/dbvar/variants/nssv17955799">nssv17955799</a></td><td><a href="/dbvar?term=%22nstd218%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd218"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>103</td><td></td><td>105</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd219">nstd219</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd219">nstd219 (Bao et al. 2022)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>deletion</td><td>1</td><td><a href="/dbvar/variants/nssv17956058">nssv17956058</a></td><td><a href="/dbvar?term=%22nstd219%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd219"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd220">nstd220</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd220">nstd220 (Chen et al. 2022)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>17</td><td>copy number gain</td><td>5</td><td><a href="/dbvar/variants/nssv17976216">nssv17976216</a></td><td><a href="/dbvar?term=%22nstd220%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd220"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>12</td><td><a href="/dbvar/variants/nssv17976218">nssv17976218</a></td><td><a href="/dbvar?term=%22nstd220%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd220"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>17</td><td></td><td>17</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd221">nstd221</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd221">nstd221 (Bao et al. 2022b)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>3</td><td>deletion</td><td>3</td><td><a href="/dbvar/variants/nssv17976489">nssv17976489</a></td><td><a href="/dbvar?term=%22nstd221%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd221"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>delins</td><td>1</td><td>delins</td><td>1</td><td><a href="/dbvar/variants/nssv17976490">nssv17976490</a></td><td><a href="/dbvar?term=%22nstd221%22%5Bstudy%5D+AND+%22delins%22%5Bvariant_type%5D">"nstd221"[study] AND "delins"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>4</td><td></td><td>4</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd222">nstd222</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd222">nstd222 (Bzdega et al. 2022)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>copy number loss</td><td>1</td><td><a href="/dbvar/variants/nssv17977124">nssv17977124</a></td><td><a href="/dbvar?term=%22nstd222%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd222"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd223">nstd223</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd223">nstd223 (Sedlazeck et al. 2020)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>248479</td><td>deletion</td><td>204432</td><td><a href="/dbvar/variants/nssv18197113">nssv18197113</a></td><td><a href="/dbvar?term=%22nstd223%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd223"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>44060</td><td><a href="/dbvar/variants/nssv18237122">nssv18237122</a></td><td><a href="/dbvar?term=%22nstd223%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd223"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>56003</td><td>inversion</td><td>56003</td><td><a href="/dbvar/variants/nssv18281619">nssv18281619</a></td><td><a href="/dbvar?term=%22nstd223%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd223"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>304482</td><td></td><td>304495</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd224">nstd224</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd224">nstd224 (Zarrei et al. 2023)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>14225</td><td>copy number variation</td><td>2</td><td><a href="/dbvar/variants/nssv18292999">nssv18292999</a></td><td><a href="/dbvar?term=%22nstd224%22%5Bstudy%5D+AND+%22copy number variation%22%5Bvariant_type%5D">"nstd224"[study] AND "copy number variation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>22406</td><td><a href="/dbvar/variants/nssv18326289">nssv18326289</a></td><td><a href="/dbvar?term=%22nstd224%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd224"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>22263</td><td><a href="/dbvar/variants/nssv18326290">nssv18326290</a></td><td><a href="/dbvar?term=%22nstd224%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd224"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>14225</td><td></td><td>44671</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd225">nstd225</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd225">nstd225 (Xiao et al. 2022)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>copy number loss</td><td>1</td><td><a href="/dbvar/variants/nssv18326478">nssv18326478</a></td><td><a href="/dbvar?term=%22nstd225%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd225"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd226">nstd226</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd226">nstd226 (Mei et al. 2022)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>copy number loss</td><td>1</td><td><a href="/dbvar/variants/nssv18326479">nssv18326479</a></td><td><a href="/dbvar?term=%22nstd226%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd226"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd227">nstd227</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd227">nstd227 (Kikas et al. 2023)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1242</td><td>deletion</td><td>1304</td><td><a href="/dbvar/variants/nssv18328825">nssv18328825</a></td><td><a href="/dbvar?term=%22nstd227%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd227"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>765</td><td><a href="/dbvar/variants/nssv18328802">nssv18328802</a></td><td><a href="/dbvar?term=%22nstd227%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd227"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1242</td><td></td><td>2069</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd228">nstd228</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd228">nstd228 (Fan et al. 2022)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>2</td><td>copy number gain</td><td>1</td><td><a href="/dbvar/variants/nssv18786565">nssv18786565</a></td><td><a href="/dbvar?term=%22nstd228%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd228"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>1</td><td><a href="/dbvar/variants/nssv18786564">nssv18786564</a></td><td><a href="/dbvar?term=%22nstd228%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd228"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>2</td><td></td><td>2</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd229">nstd229</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd229">nstd229 (Jun et al. 2023)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>336775</td><td>deletion</td><td>241518</td><td><a href="/dbvar/variants/nssv18590982">nssv18590982</a></td><td><a href="/dbvar?term=%22nstd229%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd229"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>95259</td><td><a href="/dbvar/variants/nssv18750990">nssv18750990</a></td><td><a href="/dbvar?term=%22nstd229%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd229"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>39521</td><td>inversion</td><td>39521</td><td><a href="/dbvar/variants/nssv18785947">nssv18785947</a></td><td><a href="/dbvar?term=%22nstd229%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd229"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>376296</td><td></td><td>376298</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd230">nstd230</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd230">nstd230 (Sugimoto et al. 2023)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex chromosomal rearrangement</td><td>14</td><td>interchromosomal translocation</td><td>86</td><td><a href="/dbvar/variants/nssv18792541">nssv18792541</a></td><td><a href="/dbvar?term=%22nstd230%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"nstd230"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>98</td><td><a href="/dbvar/variants/nssv18792540">nssv18792540</a></td><td><a href="/dbvar?term=%22nstd230%22%5Bstudy%5D+AND+%22intrachromosomal translocation%22%5Bvariant_type%5D">"nstd230"[study] AND "intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>14</td><td></td><td>184</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd231">nstd231</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd231">nstd231 (Ali et al. 2023)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>133</td><td>copy number gain</td><td>2</td><td><a href="/dbvar/variants/nssv18793017">nssv18793017</a></td><td><a href="/dbvar?term=%22nstd231%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"nstd231"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>22</td><td><a href="/dbvar/variants/nssv18793037">nssv18793037</a></td><td><a href="/dbvar?term=%22nstd231%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"nstd231"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>122</td><td><a href="/dbvar/variants/nssv18793039">nssv18793039</a></td><td><a href="/dbvar?term=%22nstd231%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"nstd231"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>133</td><td></td><td>146</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd233">nstd233</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd233">nstd233 (Bzdega et al. 2023)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>copy number loss</td><td>1</td><td><a href="/dbvar/variants/nssv18830931">nssv18830931</a></td><td><a href="/dbvar?term=%22nstd233%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"nstd233"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="nstd234">nstd234</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/nstd234">nstd234 (Malhotra et al. 2023)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>inversion</td><td>1</td><td>inversion</td><td>1</td><td><a href="/dbvar/variants/nssv18830932">nssv18830932</a></td><td><a href="/dbvar?term=%22nstd234%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"nstd234"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd1">estd1</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd1">estd1 (Redon et al. 2006)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>3340</td><td>copy number gain</td><td>13942</td><td><a href="/dbvar/variants/essv9998">essv9998</a></td><td><a href="/dbvar?term=%22estd1%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd1"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>11518</td><td><a href="/dbvar/variants/essv9999">essv9999</a></td><td><a href="/dbvar?term=%22estd1%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd1"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>3340</td><td></td><td>25193</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd3">estd3</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd3">estd3 (Wang et al. 2008)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>2637</td><td>complex substitution</td><td>191</td><td><a href="/dbvar/variants/essv27860">essv27860</a></td><td><a href="/dbvar?term=%22estd3%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"estd3"[study] AND "complex substitution"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>2446</td><td><a href="/dbvar/variants/essv27875">essv27875</a></td><td><a href="/dbvar?term=%22estd3%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd3"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>16</td><td>inversion</td><td>16</td><td><a href="/dbvar/variants/essv27765">essv27765</a></td><td><a href="/dbvar?term=%22estd3%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"estd3"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>sequence alteration</td><td>29</td><td>sequence alteration</td><td>29</td><td><a href="/dbvar/variants/essv27822">essv27822</a></td><td><a href="/dbvar?term=%22estd3%22%5Bstudy%5D+AND+%22sequence alteration%22%5Bvariant_type%5D">"estd3"[study] AND "sequence alteration"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>2682</td><td></td><td>2682</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd19">estd19</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd19">estd19 (Ahn et al. 2009)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>3883</td><td>copy number gain</td><td>963</td><td><a href="/dbvar/variants/essv32171">essv32171</a></td><td><a href="/dbvar?term=%22estd19%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd19"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>2920</td><td><a href="/dbvar/variants/essv32173">essv32173</a></td><td><a href="/dbvar?term=%22estd19%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd19"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>415</td><td>inversion</td><td>415</td><td><a href="/dbvar/variants/essv32166">essv32166</a></td><td><a href="/dbvar?term=%22estd19%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"estd19"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>4298</td><td></td><td>4298</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd20">estd20</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd20">estd20 (Conrad et al. 2009)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>11700</td><td>copy number gain</td><td>26124</td><td><a href="/dbvar/variants/essv84153">essv84153</a></td><td><a href="/dbvar?term=%22estd20%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd20"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>25857</td><td><a href="/dbvar/variants/essv84154">essv84154</a></td><td><a href="/dbvar?term=%22estd20%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd20"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>20206</td><td></td><td>51981</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd21">estd21</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd21">estd21 (Wheeler et al. 2008)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>23</td><td>copy number gain</td><td>9</td><td><a href="/dbvar/variants/essv84200">essv84200</a></td><td><a href="/dbvar?term=%22estd21%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd21"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>14</td><td><a href="/dbvar/variants/essv84198">essv84198</a></td><td><a href="/dbvar?term=%22estd21%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd21"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>23</td><td></td><td>23</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd22">estd22</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd22">estd22 (Levy et al. 2007)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>376653</td><td>copy number gain</td><td>19</td><td><a href="/dbvar/variants/essv84245">essv84245</a></td><td><a href="/dbvar?term=%22estd22%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd22"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>26</td><td><a href="/dbvar/variants/essv84244">essv84244</a></td><td><a href="/dbvar?term=%22estd22%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd22"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>376608</td><td><a href="/dbvar/variants/essv4367655">essv4367655</a></td><td><a href="/dbvar?term=%22estd22%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd22"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>403615</td><td>insertion</td><td>403615</td><td><a href="/dbvar/variants/essv4367659">essv4367659</a></td><td><a href="/dbvar?term=%22estd22%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"estd22"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>90</td><td>inversion</td><td>90</td><td><a href="/dbvar/variants/essv4361689">essv4361689</a></td><td><a href="/dbvar?term=%22estd22%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"estd22"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>780358</td><td></td><td>780358</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd24">estd24</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd24">estd24 (de Smith et al. 2007)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1773</td><td>copy number gain</td><td>4369</td><td><a href="/dbvar/variants/essv99997">essv99997</a></td><td><a href="/dbvar?term=%22estd24%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd24"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>4913</td><td><a href="/dbvar/variants/essv99999">essv99999</a></td><td><a href="/dbvar?term=%22estd24%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd24"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1773</td><td></td><td>9282</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd48">estd48</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd48">estd48 (Stefansson et al. 2005)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>inversion</td><td>1</td><td>inversion</td><td>1</td><td><a href="/dbvar/variants/essv7033422">essv7033422</a></td><td><a href="/dbvar?term=%22estd48%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"estd48"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1</td><td></td><td>1</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd49">estd49</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd49">estd49 (Gusev et al. 2008)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>225</td><td>copy number loss</td><td>225</td><td><a href="/dbvar/variants/essv6990737">essv6990737</a></td><td><a href="/dbvar?term=%22estd49%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd49"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>225</td><td></td><td>225</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd50">estd50</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd50">estd50 (Giglio et al. 2002)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>inversion</td><td>2</td><td>inversion</td><td>4</td><td><a href="/dbvar/variants/essv7571845">essv7571845</a></td><td><a href="/dbvar?term=%22estd50%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"estd50"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>2</td><td></td><td>4</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd55">estd55</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd55">estd55 (Pinto et al. 2007)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>6862</td><td>copy number gain</td><td>8003</td><td><a href="/dbvar/variants/essv6990524">essv6990524</a></td><td><a href="/dbvar?term=%22estd55%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd55"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>4580</td><td><a href="/dbvar/variants/essv6990176">essv6990176</a></td><td><a href="/dbvar?term=%22estd55%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd55"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>6862</td><td></td><td>12583</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd59">estd59</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd59">estd59 (1000 Genomes Project Consortium et al. 2010)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>206192</td><td>deletion</td><td>1952690</td><td><a href="/dbvar/variants/essv9729888">essv9729888</a></td><td><a href="/dbvar?term=%22estd59%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd59"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>11020</td><td><a href="/dbvar/variants/essv8809655">essv8809655</a></td><td><a href="/dbvar?term=%22estd59%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"estd59"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>14346</td><td>insertion</td><td>94504</td><td><a href="/dbvar/variants/essv9682247">essv9682247</a></td><td><a href="/dbvar?term=%22estd59%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"estd59"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>191</td><td>inversion</td><td>191</td><td><a href="/dbvar/variants/essv8809650">essv8809650</a></td><td><a href="/dbvar?term=%22estd59%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"estd59"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element insertion</td><td>7306</td><td>mobile element insertion</td><td>91852</td><td><a href="/dbvar/variants/essv7843378">essv7843378</a></td><td><a href="/dbvar?term=%22estd59%22%5Bstudy%5D+AND+%22mobile element insertion%22%5Bvariant_type%5D">"estd59"[study] AND "mobile element insertion"[variant_type]</a></td></tr>
|
|
<tr><td>novel sequence insertion</td><td>173</td><td>novel sequence insertion</td><td>223</td><td><a href="/dbvar/variants/essv7843646">essv7843646</a></td><td><a href="/dbvar?term=%22estd59%22%5Bstudy%5D+AND+%22novel sequence insertion%22%5Bvariant_type%5D">"estd59"[study] AND "novel sequence insertion"[variant_type]</a></td></tr>
|
|
<tr><td>tandem duplication</td><td>663</td><td>tandem duplication</td><td>7531</td><td><a href="/dbvar/variants/essv7739279">essv7739279</a></td><td><a href="/dbvar?term=%22estd59%22%5Bstudy%5D+AND+%22tandem duplication%22%5Bvariant_type%5D">"estd59"[study] AND "tandem duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>228871</td><td></td><td>2158011</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd176">estd176</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd176">estd176 (Banerjee et al. 2011)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex substitution</td><td>3</td><td>complex substitution</td><td>4</td><td><a href="/dbvar/variants/essv2585969">essv2585969</a></td><td><a href="/dbvar?term=%22estd176%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"estd176"[study] AND "complex substitution"[variant_type]</a></td></tr>
|
|
<tr><td>copy number variation</td><td>731</td><td>copy number gain</td><td>346</td><td><a href="/dbvar/variants/essv2586183">essv2586183</a></td><td><a href="/dbvar?term=%22estd176%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd176"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>731</td><td><a href="/dbvar/variants/essv2586188">essv2586188</a></td><td><a href="/dbvar?term=%22estd176%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd176"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>734</td><td></td><td>1081</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd180">estd180</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd180">estd180 (Pang et al. 2010)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>14491</td><td>copy number gain</td><td>624</td><td><a href="/dbvar/variants/essv3587338">essv3587338</a></td><td><a href="/dbvar?term=%22estd180%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd180"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>714</td><td><a href="/dbvar/variants/essv3587336">essv3587336</a></td><td><a href="/dbvar?term=%22estd180%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd180"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>13153</td><td><a href="/dbvar/variants/essv3586000">essv3586000</a></td><td><a href="/dbvar?term=%22estd180%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd180"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>9291</td><td>insertion</td><td>9291</td><td><a href="/dbvar/variants/essv3585997">essv3585997</a></td><td><a href="/dbvar?term=%22estd180%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"estd180"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>105</td><td>inversion</td><td>105</td><td><a href="/dbvar/variants/essv3565824">essv3565824</a></td><td><a href="/dbvar?term=%22estd180%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"estd180"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>23887</td><td></td><td>23887</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd186">estd186</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd186">estd186 (Thevenon et al. 2012)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>3</td><td>copy number gain</td><td>1</td><td><a href="/dbvar/variants/essv4367669">essv4367669</a></td><td><a href="/dbvar?term=%22estd186%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd186"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>2</td><td><a href="/dbvar/variants/essv4367668">essv4367668</a></td><td><a href="/dbvar?term=%22estd186%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd186"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>3</td><td></td><td>3</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd188">estd188</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd188">estd188 (Pinto et al. 2011)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>60247</td><td>copy number gain</td><td>16830</td><td><a href="/dbvar/variants/essv4427906">essv4427906</a></td><td><a href="/dbvar?term=%22estd188%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd188"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>43417</td><td><a href="/dbvar/variants/essv4427916">essv4427916</a></td><td><a href="/dbvar?term=%22estd188%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd188"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>60247</td><td></td><td>60247</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd192">estd192</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd192">estd192 (Forbes et al. 2008)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex chromosomal rearrangement</td><td>13994</td><td>deletion</td><td>1799</td><td><a href="/dbvar/variants/essv16645733">essv16645733</a></td><td><a href="/dbvar?term=%22estd192%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd192"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>interchromosomal translocation</td><td>11501</td><td><a href="/dbvar/variants/essv16645771">essv16645771</a></td><td><a href="/dbvar?term=%22estd192%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"estd192"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>1754</td><td><a href="/dbvar/variants/essv16645770">essv16645770</a></td><td><a href="/dbvar?term=%22estd192%22%5Bstudy%5D+AND+%22intrachromosomal translocation%22%5Bvariant_type%5D">"estd192"[study] AND "intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td>complex substitution</td><td>1</td><td>interchromosomal translocation</td><td>2</td><td><a href="/dbvar/variants/essv16639675">essv16639675</a></td><td><a href="/dbvar?term=%22estd192%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"estd192"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td>copy number variation</td><td>23279</td><td>deletion</td><td>26371</td><td><a href="/dbvar/variants/essv16645772">essv16645772</a></td><td><a href="/dbvar?term=%22estd192%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd192"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>4</td><td><a href="/dbvar/variants/essv16638008">essv16638008</a></td><td><a href="/dbvar?term=%22estd192%22%5Bstudy%5D+AND+%22intrachromosomal translocation%22%5Bvariant_type%5D">"estd192"[study] AND "intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>35</td><td>insertion</td><td>44</td><td><a href="/dbvar/variants/essv16645497">essv16645497</a></td><td><a href="/dbvar?term=%22estd192%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"estd192"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>8882</td><td>deletion</td><td>1</td><td><a href="/dbvar/variants/essv16581090">essv16581090</a></td><td><a href="/dbvar?term=%22estd192%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd192"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>interchromosomal translocation</td><td>5</td><td><a href="/dbvar/variants/essv16640986">essv16640986</a></td><td><a href="/dbvar?term=%22estd192%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"estd192"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>5</td><td><a href="/dbvar/variants/essv16643495">essv16643495</a></td><td><a href="/dbvar?term=%22estd192%22%5Bstudy%5D+AND+%22intrachromosomal translocation%22%5Bvariant_type%5D">"estd192"[study] AND "intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>inversion</td><td>9557</td><td><a href="/dbvar/variants/essv16645768">essv16645768</a></td><td><a href="/dbvar?term=%22estd192%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"estd192"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>tandem duplication</td><td>14996</td><td>interchromosomal translocation</td><td>21</td><td><a href="/dbvar/variants/essv16645629">essv16645629</a></td><td><a href="/dbvar?term=%22estd192%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"estd192"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>9</td><td><a href="/dbvar/variants/essv16641459">essv16641459</a></td><td><a href="/dbvar?term=%22estd192%22%5Bstudy%5D+AND+%22intrachromosomal translocation%22%5Bvariant_type%5D">"estd192"[study] AND "intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>tandem duplication</td><td>17129</td><td><a href="/dbvar/variants/essv16645773">essv16645773</a></td><td><a href="/dbvar?term=%22estd192%22%5Bstudy%5D+AND+%22tandem duplication%22%5Bvariant_type%5D">"estd192"[study] AND "tandem duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>61187</td><td></td><td>68202</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd193">estd193</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd193">estd193 (Feuk et al. 2005)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>inversion</td><td>3</td><td>inversion</td><td>3</td><td><a href="/dbvar/variants/essv4491061">essv4491061</a></td><td><a href="/dbvar?term=%22estd193%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"estd193"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>3</td><td></td><td>3</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd194">estd194</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd194">estd194 (Bentley et al. 2008)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>282411</td><td>deletion</td><td>282411</td><td><a href="/dbvar/variants/essv5001893">essv5001893</a></td><td><a href="/dbvar?term=%22estd194%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd194"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>222501</td><td>insertion</td><td>222501</td><td><a href="/dbvar/variants/essv5001891">essv5001891</a></td><td><a href="/dbvar?term=%22estd194%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"estd194"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>504912</td><td></td><td>504912</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd195">estd195</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd195">estd195 (International HapMap 3 Consortium et al. 2010)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex substitution</td><td>43</td><td>deletion</td><td>10104</td><td><a href="/dbvar/variants/essv5161217">essv5161217</a></td><td><a href="/dbvar?term=%22estd195%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd195"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>6054</td><td><a href="/dbvar/variants/essv5161201">essv5161201</a></td><td><a href="/dbvar?term=%22estd195%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"estd195"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>copy number variation</td><td>813</td><td>deletion</td><td>133355</td><td><a href="/dbvar/variants/essv5161230">essv5161230</a></td><td><a href="/dbvar?term=%22estd195%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd195"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>9824</td><td><a href="/dbvar/variants/essv5161193">essv5161193</a></td><td><a href="/dbvar?term=%22estd195%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"estd195"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>856</td><td></td><td>159337</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd196">estd196</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd196">estd196 (Simon-Sanchez et al. 2006)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>335</td><td>deletion</td><td>125</td><td><a href="/dbvar/variants/essv5161565">essv5161565</a></td><td><a href="/dbvar?term=%22estd196%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd196"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>210</td><td><a href="/dbvar/variants/essv5161561">essv5161561</a></td><td><a href="/dbvar?term=%22estd196%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"estd196"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>335</td><td></td><td>335</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd197">estd197</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd197">estd197 (McKernan et al. 2009)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>130732</td><td>copy number gain</td><td>78</td><td><a href="/dbvar/variants/essv5394127">essv5394127</a></td><td><a href="/dbvar?term=%22estd197%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd197"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>487</td><td><a href="/dbvar/variants/essv5392997">essv5392997</a></td><td><a href="/dbvar?term=%22estd197%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd197"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>130167</td><td><a href="/dbvar/variants/essv5394337">essv5394337</a></td><td><a href="/dbvar?term=%22estd197%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd197"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>101952</td><td>insertion</td><td>101952</td><td><a href="/dbvar/variants/essv5394340">essv5394340</a></td><td><a href="/dbvar?term=%22estd197%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"estd197"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>91</td><td>inversion</td><td>91</td><td><a href="/dbvar/variants/essv5394106">essv5394106</a></td><td><a href="/dbvar?term=%22estd197%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"estd197"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>232775</td><td></td><td>232775</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd198">estd198</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd198">estd198 (Chia et al. 2013)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>381</td><td>copy number gain</td><td>9</td><td><a href="/dbvar/variants/essv5395537">essv5395537</a></td><td><a href="/dbvar?term=%22estd198%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd198"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>390</td><td><a href="/dbvar/variants/essv5395538">essv5395538</a></td><td><a href="/dbvar?term=%22estd198%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd198"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>381</td><td></td><td>399</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd199">estd199</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd199">estd199 (1000 Genomes Project Consortium et al. 2012)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>22531</td><td>deletion</td><td>1202929</td><td><a href="/dbvar/variants/essv6598470">essv6598470</a></td><td><a href="/dbvar?term=%22estd199%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd199"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>22531</td><td></td><td>1202929</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd201">estd201</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd201">estd201 (Wong et al. 2013)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>36558</td><td>deletion</td><td>526905</td><td><a href="/dbvar/variants/essv6977926">essv6977926</a></td><td><a href="/dbvar?term=%22estd201%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd201"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>36558</td><td></td><td>312665</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd203">estd203</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd203">estd203 (Vogler et al. 2010)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>4192</td><td>copy number gain</td><td>7984</td><td><a href="/dbvar/variants/essv7033400">essv7033400</a></td><td><a href="/dbvar?term=%22estd203%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd203"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>34685</td><td><a href="/dbvar/variants/essv7033410">essv7033410</a></td><td><a href="/dbvar?term=%22estd203%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd203"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>4192</td><td></td><td>42669</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd206">estd206</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd206">estd206 (Nagirnaja et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>513</td><td>copy number gain</td><td>289</td><td><a href="/dbvar/variants/essv7099909">essv7099909</a></td><td><a href="/dbvar?term=%22estd206%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd206"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>626</td><td><a href="/dbvar/variants/essv7099915">essv7099915</a></td><td><a href="/dbvar?term=%22estd206%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd206"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>513</td><td></td><td>915</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd208">estd208</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd208">estd208 (Helbig et al. 2013)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>81</td><td>deletion</td><td>39</td><td><a href="/dbvar/variants/essv7100009">essv7100009</a></td><td><a href="/dbvar?term=%22estd208%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd208"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>49</td><td><a href="/dbvar/variants/essv7100011">essv7100011</a></td><td><a href="/dbvar?term=%22estd208%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"estd208"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>81</td><td></td><td>88</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd209">estd209</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd209">estd209 (Pang et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>230969</td><td>deletion</td><td>230782</td><td><a href="/dbvar/variants/essv7571728">essv7571728</a></td><td><a href="/dbvar?term=%22estd209%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd209"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>187</td><td><a href="/dbvar/variants/essv7568506">essv7568506</a></td><td><a href="/dbvar?term=%22estd209%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"estd209"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>240848</td><td>insertion</td><td>240848</td><td><a href="/dbvar/variants/essv7571838">essv7571838</a></td><td><a href="/dbvar?term=%22estd209%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"estd209"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>471817</td><td></td><td>471817</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd210">estd210</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd210">estd210 (Blake et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>deletion</td><td>1</td><td><a href="/dbvar/variants/essv26058945">essv26058945</a></td><td><a href="/dbvar?term=%22estd210%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd210"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>2</td><td>inversion</td><td>2</td><td><a href="/dbvar/variants/essv26058944">essv26058944</a></td><td><a href="/dbvar?term=%22estd210%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"estd210"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>translocation</td><td>1</td><td>interchromosomal translocation</td><td>1</td><td><a href="/dbvar/variants/essv26058942">essv26058942</a></td><td><a href="/dbvar?term=%22estd210%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"estd210"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>4</td><td></td><td>4</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd211">estd211</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd211">estd211 (Campbell et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>100</td><td>deletion</td><td>100</td><td><a href="/dbvar/variants/essv9766641">essv9766641</a></td><td><a href="/dbvar?term=%22estd211%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd211"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>100</td><td></td><td>100</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd212">estd212</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd212">estd212 (Uddin et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>16575</td><td>copy number gain</td><td>14736</td><td><a href="/dbvar/variants/essv9837747">essv9837747</a></td><td><a href="/dbvar?term=%22estd212%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd212"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>56442</td><td><a href="/dbvar/variants/essv9837819">essv9837819</a></td><td><a href="/dbvar?term=%22estd212%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd212"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>16575</td><td></td><td>71178</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd213">estd213</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd213">estd213 (Mokhtar et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>497</td><td>copy number gain</td><td>334</td><td><a href="/dbvar/variants/essv9838930">essv9838930</a></td><td><a href="/dbvar?term=%22estd213%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd213"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>777</td><td><a href="/dbvar/variants/essv9838932">essv9838932</a></td><td><a href="/dbvar?term=%22estd213%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd213"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>497</td><td></td><td>1111</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd214">estd214</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd214">estd214 (1000 Genomes Project Consortium et al. 2015)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>42453</td><td>copy number gain</td><td>386472</td><td><a href="/dbvar/variants/essv9996332">essv9996332</a></td><td><a href="/dbvar?term=%22estd214%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd214"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>196154</td><td><a href="/dbvar/variants/essv9996329">essv9996329</a></td><td><a href="/dbvar?term=%22estd214%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd214"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>2466670</td><td><a href="/dbvar/variants/essv9999999">essv9999999</a></td><td><a href="/dbvar?term=%22estd214%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd214"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>41171</td><td><a href="/dbvar/variants/essv9993533">essv9993533</a></td><td><a href="/dbvar?term=%22estd214%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"estd214"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>delins</td><td>2288</td><td>delins</td><td>1103443</td><td><a href="/dbvar/variants/essv9983164">essv9983164</a></td><td><a href="/dbvar?term=%22estd214%22%5Bstudy%5D+AND+%22delins%22%5Bvariant_type%5D">"estd214"[study] AND "delins"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>164</td><td>insertion</td><td>11299</td><td><a href="/dbvar/variants/essv9978294">essv9978294</a></td><td><a href="/dbvar?term=%22estd214%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"estd214"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>100</td><td>inversion</td><td>26701</td><td><a href="/dbvar/variants/essv9923998">essv9923998</a></td><td><a href="/dbvar?term=%22estd214%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"estd214"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element insertion</td><td>16673</td><td>alu insertion</td><td>2216195</td><td><a href="/dbvar/variants/essv9999374">essv9999374</a></td><td><a href="/dbvar?term=%22estd214%22%5Bstudy%5D+AND+%22alu insertion%22%5Bvariant_type%5D">"estd214"[study] AND "alu insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 insertion</td><td>311031</td><td><a href="/dbvar/variants/essv9996996">essv9996996</a></td><td><a href="/dbvar?term=%22estd214%22%5Bstudy%5D+AND+%22line1 insertion%22%5Bvariant_type%5D">"estd214"[study] AND "line1 insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>mobile element insertion</td><td>58692</td><td><a href="/dbvar/variants/essv25778189">essv25778189</a></td><td><a href="/dbvar?term=%22estd214%22%5Bstudy%5D+AND+%22mobile element insertion%22%5Bvariant_type%5D">"estd214"[study] AND "mobile element insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva insertion</td><td>125525</td><td><a href="/dbvar/variants/essv9980992">essv9980992</a></td><td><a href="/dbvar?term=%22estd214%22%5Bstudy%5D+AND+%22sva insertion%22%5Bvariant_type%5D">"estd214"[study] AND "sva insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>61678</td><td></td><td>6943353</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd215">estd215</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd215">estd215 (Boomsma et al. 2013)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>28083</td><td>deletion</td><td>28083</td><td><a href="/dbvar/variants/essv9766504">essv9766504</a></td><td><a href="/dbvar?term=%22estd215%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd215"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>28083</td><td></td><td>28083</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd216">estd216</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd216">estd216 (Kasak et al. 2015)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>879</td><td>deletion</td><td>630</td><td><a href="/dbvar/variants/essv16463298">essv16463298</a></td><td><a href="/dbvar?term=%22estd216%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd216"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>249</td><td><a href="/dbvar/variants/essv16463300">essv16463300</a></td><td><a href="/dbvar?term=%22estd216%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"estd216"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>879</td><td></td><td>879</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd217">estd217</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd217">estd217 (Besenbacher et al. 2015)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex substitution</td><td>3826</td><td>complex substitution</td><td>3826</td><td><a href="/dbvar/variants/essv16503432">essv16503432</a></td><td><a href="/dbvar?term=%22estd217%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"estd217"[study] AND "complex substitution"[variant_type]</a></td></tr>
|
|
<tr><td>copy number variation</td><td>11340</td><td>deletion</td><td>11340</td><td><a href="/dbvar/variants/essv16503442">essv16503442</a></td><td><a href="/dbvar?term=%22estd217%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd217"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>18349</td><td>insertion</td><td>18349</td><td><a href="/dbvar/variants/essv16489432">essv16489432</a></td><td><a href="/dbvar?term=%22estd217%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"estd217"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>26</td><td>inversion</td><td>26</td><td><a href="/dbvar/variants/essv16489461">essv16489461</a></td><td><a href="/dbvar?term=%22estd217%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"estd217"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>novel sequence insertion</td><td>3662</td><td>novel sequence insertion</td><td>3662</td><td><a href="/dbvar/variants/essv16493530">essv16493530</a></td><td><a href="/dbvar?term=%22estd217%22%5Bstudy%5D+AND+%22novel sequence insertion%22%5Bvariant_type%5D">"estd217"[study] AND "novel sequence insertion"[variant_type]</a></td></tr>
|
|
<tr><td>sequence alteration</td><td>2938</td><td>sequence alteration</td><td>2938</td><td><a href="/dbvar/variants/essv16496795">essv16496795</a></td><td><a href="/dbvar?term=%22estd217%22%5Bstudy%5D+AND+%22sequence alteration%22%5Bvariant_type%5D">"estd217"[study] AND "sequence alteration"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>40141</td><td></td><td>40141</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd218">estd218</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd218">estd218 (Simpson et al. 2015)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>5513</td><td>copy number gain</td><td>1491</td><td><a href="/dbvar/variants/essv26051856">essv26051856</a></td><td><a href="/dbvar?term=%22estd218%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd218"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>4022</td><td><a href="/dbvar/variants/essv26051858">essv26051858</a></td><td><a href="/dbvar?term=%22estd218%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd218"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>5513</td><td></td><td>5513</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd219">estd219</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd219">estd219 (1000 Genomes Consortium Phase 3 Integrated SV)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>49936</td><td>copy number gain</td><td>125971</td><td><a href="/dbvar/variants/essv25742895">essv25742895</a></td><td><a href="/dbvar?term=%22estd219%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd219"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>127112</td><td><a href="/dbvar/variants/essv25742894">essv25742894</a></td><td><a href="/dbvar?term=%22estd219%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd219"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number variation</td><td>202435</td><td><a href="/dbvar/variants/essv25719439">essv25719439</a></td><td><a href="/dbvar?term=%22estd219%22%5Bstudy%5D+AND+%22copy number variation%22%5Bvariant_type%5D">"estd219"[study] AND "copy number variation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>deletion</td><td>3743754</td><td><a href="/dbvar/variants/essv25753358">essv25753358</a></td><td><a href="/dbvar?term=%22estd219%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd219"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>34932</td><td><a href="/dbvar/variants/essv25753174">essv25753174</a></td><td><a href="/dbvar?term=%22estd219%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"estd219"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>insertion</td><td>168</td><td>insertion</td><td>11372</td><td><a href="/dbvar/variants/essv25321923">essv25321923</a></td><td><a href="/dbvar?term=%22estd219%22%5Bstudy%5D+AND+%22insertion%22%5Bvariant_type%5D">"estd219"[study] AND "insertion"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>786</td><td>inversion</td><td>76016</td><td><a href="/dbvar/variants/essv25112157">essv25112157</a></td><td><a href="/dbvar?term=%22estd219%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"estd219"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element deletion</td><td>1304</td><td>alu deletion</td><td>1697180</td><td><a href="/dbvar/variants/essv25710927">essv25710927</a></td><td><a href="/dbvar?term=%22estd219%22%5Bstudy%5D+AND+%22alu deletion%22%5Bvariant_type%5D">"estd219"[study] AND "alu deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>herv deletion</td><td>197</td><td><a href="/dbvar/variants/essv19823631">essv19823631</a></td><td><a href="/dbvar?term=%22estd219%22%5Bstudy%5D+AND+%22herv deletion%22%5Bvariant_type%5D">"estd219"[study] AND "herv deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 deletion</td><td>81898</td><td><a href="/dbvar/variants/essv25696906">essv25696906</a></td><td><a href="/dbvar?term=%22estd219%22%5Bstudy%5D+AND+%22line1 deletion%22%5Bvariant_type%5D">"estd219"[study] AND "line1 deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva deletion</td><td>14254</td><td><a href="/dbvar/variants/essv24843323">essv24843323</a></td><td><a href="/dbvar?term=%22estd219%22%5Bstudy%5D+AND+%22sva deletion%22%5Bvariant_type%5D">"estd219"[study] AND "sva deletion"[variant_type]</a></td></tr>
|
|
<tr><td>mobile element insertion</td><td>16631</td><td>alu insertion</td><td>2249448</td><td><a href="/dbvar/variants/essv25752967">essv25752967</a></td><td><a href="/dbvar?term=%22estd219%22%5Bstudy%5D+AND+%22alu insertion%22%5Bvariant_type%5D">"estd219"[study] AND "alu insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>line1 insertion</td><td>321184</td><td><a href="/dbvar/variants/essv25753351">essv25753351</a></td><td><a href="/dbvar?term=%22estd219%22%5Bstudy%5D+AND+%22line1 insertion%22%5Bvariant_type%5D">"estd219"[study] AND "line1 insertion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>sva insertion</td><td>126804</td><td><a href="/dbvar/variants/essv25733601">essv25733601</a></td><td><a href="/dbvar?term=%22estd219%22%5Bstudy%5D+AND+%22sva insertion%22%5Bvariant_type%5D">"estd219"[study] AND "sva insertion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>68825</td><td></td><td>8812557</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd220">estd220</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd220">estd220 (Pettigrew et al. 2015)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>3620</td><td>deletion</td><td>403</td><td><a href="/dbvar/variants/essv16507027">essv16507027</a></td><td><a href="/dbvar?term=%22estd220%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd220"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>3217</td><td><a href="/dbvar/variants/essv16507026">essv16507026</a></td><td><a href="/dbvar?term=%22estd220%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"estd220"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>3620</td><td></td><td>3585</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd221">estd221</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd221">estd221 (Palta et al. 2015)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>699</td><td>copy number gain</td><td>393</td><td><a href="/dbvar/variants/essv16509331">essv16509331</a></td><td><a href="/dbvar?term=%22estd221%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd221"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>1920</td><td><a href="/dbvar/variants/essv16509340">essv16509340</a></td><td><a href="/dbvar?term=%22estd221%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd221"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>699</td><td></td><td>2313</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd222">estd222</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd222">estd222 (Franke et al. 2015)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex substitution</td><td>2</td><td>complex substitution</td><td>35508</td><td><a href="/dbvar/variants/essv25893569">essv25893569</a></td><td><a href="/dbvar?term=%22estd222%22%5Bstudy%5D+AND+%22complex substitution%22%5Bvariant_type%5D">"estd222"[study] AND "complex substitution"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>2</td><td></td><td>35508</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd224">estd224</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd224">estd224 (Suktitipat et al. 2014)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>3576</td><td>copy number gain</td><td>4879</td><td><a href="/dbvar/variants/essv25793177">essv25793177</a></td><td><a href="/dbvar?term=%22estd224%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd224"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>18579</td><td><a href="/dbvar/variants/essv25801679">essv25801679</a></td><td><a href="/dbvar?term=%22estd224%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd224"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>3576</td><td></td><td>23458</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd225">estd225</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd225">estd225 (Magnusson et al. 2016)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1249</td><td>copy number gain</td><td>732</td><td><a href="/dbvar/variants/essv25822538">essv25822538</a></td><td><a href="/dbvar?term=%22estd225%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd225"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>1185</td><td><a href="/dbvar/variants/essv25822535">essv25822535</a></td><td><a href="/dbvar?term=%22estd225%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd225"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1249</td><td></td><td>1917</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd226">estd226</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd226">estd226 (Zlotina et al. 2016)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>4</td><td>copy number gain</td><td>1</td><td><a href="/dbvar/variants/essv26046344">essv26046344</a></td><td><a href="/dbvar?term=%22estd226%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd226"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>3</td><td><a href="/dbvar/variants/essv26046345">essv26046345</a></td><td><a href="/dbvar?term=%22estd226%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd226"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>4</td><td></td><td>4</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd228">estd228</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd228">estd228 (Ansari et al. 2016)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td><strong>Total</strong></td><td>12</td><td></td><td>12</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd229">estd229</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd229">estd229 (Fakhro et al. 2015)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>16676</td><td>deletion</td><td>56972</td><td><a href="/dbvar/variants/essv26046330">essv26046330</a></td><td><a href="/dbvar?term=%22estd229%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd229"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>95757</td><td><a href="/dbvar/variants/essv26046320">essv26046320</a></td><td><a href="/dbvar?term=%22estd229%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"estd229"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>16676</td><td></td><td>152729</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd231">estd231</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd231">estd231 (Wong et al. 2017)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>6665</td><td>deletion</td><td>5545</td><td><a href="/dbvar/variants/essv26066024">essv26066024</a></td><td><a href="/dbvar?term=%22estd231%22%5Bstudy%5D+AND+%22deletion%22%5Bvariant_type%5D">"estd231"[study] AND "deletion"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>duplication</td><td>1120</td><td><a href="/dbvar/variants/essv26065257">essv26065257</a></td><td><a href="/dbvar?term=%22estd231%22%5Bstudy%5D+AND+%22duplication%22%5Bvariant_type%5D">"estd231"[study] AND "duplication"[variant_type]</a></td></tr>
|
|
<tr><td>inversion</td><td>398</td><td>inversion</td><td>398</td><td><a href="/dbvar/variants/essv26065700">essv26065700</a></td><td><a href="/dbvar?term=%22estd231%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"estd231"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>7063</td><td></td><td>7063</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd232">estd232</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd232">estd232 (Blanco-Kelly et al. 2017)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td><strong>Total</strong></td><td>8</td><td></td><td>8</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd233">estd233</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd233">estd233 (Luo et al. 2017b)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>copy number variation</td><td>1026</td><td>copy number gain</td><td>925</td><td><a href="/dbvar/variants/essv26067087">essv26067087</a></td><td><a href="/dbvar?term=%22estd233%22%5Bstudy%5D+AND+%22copy number gain%22%5Bvariant_type%5D">"estd233"[study] AND "copy number gain"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>copy number loss</td><td>101</td><td><a href="/dbvar/variants/essv26067074">essv26067074</a></td><td><a href="/dbvar?term=%22estd233%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd233"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>1026</td><td></td><td>1026</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
<h2 id="estd236">estd236</h2>
|
|
<p>
|
|
<strong>Study Page:</strong> <a href="/dbvar/studies/estd236">estd236 (Kurtas et al. 2018)</a>.
|
|
<p>
|
|
<table><tbody>
|
|
<tr><th>Region Type</th><th>Region count</th><th>Call Type</th><th>Call count</th><th>Example Variant Call</th><th>Query</th></tr>
|
|
<tr><td>complex chromosomal rearrangement</td><td>6</td><td>interchromosomal translocation</td><td>14</td><td><a href="/dbvar/variants/essv26067136">essv26067136</a></td><td><a href="/dbvar?term=%22estd236%22%5Bstudy%5D+AND+%22interchromosomal translocation%22%5Bvariant_type%5D">"estd236"[study] AND "interchromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>intrachromosomal translocation</td><td>10</td><td><a href="/dbvar/variants/essv26067133">essv26067133</a></td><td><a href="/dbvar?term=%22estd236%22%5Bstudy%5D+AND+%22intrachromosomal translocation%22%5Bvariant_type%5D">"estd236"[study] AND "intrachromosomal translocation"[variant_type]</a></td></tr>
|
|
<tr><td></td><td></td><td>inversion</td><td>1</td><td><a href="/dbvar/variants/essv26067109">essv26067109</a></td><td><a href="/dbvar?term=%22estd236%22%5Bstudy%5D+AND+%22inversion%22%5Bvariant_type%5D">"estd236"[study] AND "inversion"[variant_type]</a></td></tr>
|
|
<tr><td>copy number variation</td><td>1</td><td>copy number loss</td><td>1</td><td><a href="/dbvar/variants/essv26067121">essv26067121</a></td><td><a href="/dbvar?term=%22estd236%22%5Bstudy%5D+AND+%22copy number loss%22%5Bvariant_type%5D">"estd236"[study] AND "copy number loss"[variant_type]</a></td></tr>
|
|
<tr><td><strong>Total</strong></td><td>7</td><td></td><td>36</td><td></td><td></td></tr>
|
|
</tbody></table>
|
|
</p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p></p>
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