nsv442998
- Organism: Homo sapiens
- Study:nstd23 (Young et al. 2008)
- Variant Type:copy number variation
- Method Type:MLPA
- Submitted on:NCBI36 (hg18)
- Variant Calls:27
- Validation:Not tested
- Clinical Assertions: No
- Region Size:945
- Publication(s):Young et al. 2008
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1715 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1803 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1044 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv442998 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nsv442998 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nsv442998 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1672032 | duplication | GM17031 | MLPA | Probe signal intensity | 4 | nssv1671929, nssv1671998 |
| nssv1672035 | duplication | GM11373 | MLPA | Probe signal intensity | 4 | 6 |
| nssv1672036 | duplication | GM17035 | MLPA | Probe signal intensity | 4 | 5 |
| nssv1672037 | duplication | GM11377 | MLPA | Probe signal intensity | 4 | nssv1671984, nssv1672028 |
| nssv1672038 | duplication | GM10968 | MLPA | Probe signal intensity | 4 | nssv1671949, nssv1671980 |
| nssv1672039 | duplication | GM10969 | MLPA | Probe signal intensity | 4 | nssv1671965 |
| nssv1672040 | duplication | GM17032 | MLPA | Probe signal intensity | 3 | nssv1671936, nssv1672011 |
| nssv1672041 | duplication | GM11375 | MLPA | Probe signal intensity | 6 | nssv1671946, nssv1672003 |
| nssv1672042 | duplication | GM10979 | MLPA | Probe signal intensity | 4 | nssv1671934, nssv1671983, nssv1672000 |
| nssv1672043 | duplication | GM10471 | MLPA | Probe signal intensity | 3 | 5 |
| nssv1672044 | duplication | GM17038 | MLPA | Probe signal intensity | 3 | nssv1672009 |
| nssv1672045 | duplication | GM17036 | MLPA | Probe signal intensity | 3 | 6 |
| nssv1672046 | duplication | GM17039 | MLPA | Probe signal intensity | 3 | 5 |
| nssv1672047 | duplication | GM17037 | MLPA | Probe signal intensity | 3 | nssv1671924 |
| nssv1672048 | duplication | GM00946 | MLPA | Probe signal intensity | 3 | nssv1671904, nssv1671925, nssv1671999 |
| nssv1672049 | duplication | GM17034 | MLPA | Probe signal intensity | 3 | nssv1671906, nssv1671995, nssv1671996 |
| nssv1672050 | duplication | GM11523 | MLPA | Probe signal intensity | 3 | nssv1671973, nssv1672022 |
| nssv1672051 | duplication | GM17040 | MLPA | Probe signal intensity | 3 | 6 |
| nssv1672052 | duplication | GM14492 | MLPA | Probe signal intensity | 3 | nssv1671911, nssv1671989, nssv1672027 |
| nssv1672053 | duplication | GM10543 | MLPA | Probe signal intensity | 3 | nssv1671918, nssv1671962, nssv1672033 |
| nssv1672054 | duplication | GM10540 | MLPA | Probe signal intensity | 3 | nssv1671960 |
| nssv1672055 | duplication | GM10542 | MLPA | Probe signal intensity | 3 | nssv1671916, nssv1671979, nssv1672031 |
| nssv1672056 | duplication | GM01805 | MLPA | Probe signal intensity | 3 | nssv1671915, nssv1671971, nssv1672002 |
| nssv1672057 | duplication | GM10975 | MLPA | Probe signal intensity | 3 | nssv1671909, nssv1671978 |
| nssv1672058 | duplication | GM10976 | MLPA | Probe signal intensity | 3 | 5 |
| nssv1672059 | duplication | GM10965 | MLPA | Probe signal intensity | 3 | 5 |
| nssv1672060 | duplication | GM10966 | MLPA | Probe signal intensity | 3 | nssv1671932, nssv1671955 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1672032 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672035 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672036 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672037 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672038 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672039 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672040 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672041 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672042 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672043 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672044 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672045 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672046 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672047 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672048 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672049 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672050 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672051 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672052 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672053 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672054 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672055 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672056 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672057 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672058 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672059 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672060 | Remapped | Perfect | NC_000014.9:g.(?_1 9876268)_(19877212 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,876,268 | 19,877,212 |
| nssv1672032 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672035 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672036 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672037 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672038 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672039 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672040 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672041 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672042 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672043 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672044 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672045 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672046 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672047 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672048 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672049 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672050 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672051 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672052 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672053 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672054 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672055 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672056 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672057 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672058 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672059 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672060 | Remapped | Perfect | NC_000014.8:g.(?_2 0344427)_(20345371 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,344,427 | 20,345,371 |
| nssv1672032 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672035 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672036 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672037 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672038 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672039 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672040 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672041 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672042 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672043 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672044 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672045 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672046 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672047 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672048 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672049 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672050 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672051 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672052 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672053 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672054 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672055 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672056 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672057 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672058 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672059 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 | ||
| nssv1672060 | Submitted genomic | NC_000014.7:g.(?_1 9414267)_(19415211 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,414,267 | 19,415,211 |