nsv482238
- Organism: Homo sapiens
- Study:nstd40 (Sharp et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:GRCh37 (hg19)
- Description:del 10q26.3-qter, dup 13q34-qter; The breakpoints of this variant are not well localised. This CNV may have large blocks of segmental duplication at the flanks which are polymorphic and make it near-impossible to say exactly where the breaks are.
- Publication(s):Sharp et al. 2006
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: 23453 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 22887 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 23206 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 22733 SVs from 115 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv482238 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 128,801,737 | 133,787,422 | - |
| nsv482238 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 109,647,654 | 114,344,403 | - |
| nsv482238 | Submitted cytogenetic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 130,600,001 | - | 135,534,747 | ||
| nsv482238 | Submitted cytogenetic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 110,300,001 | - | 115,169,878 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|---|
| nssv3021973 | copy number loss | IMR283 | BAC aCGH | Probe signal intensity | Intellectual Disability | Uncertain significance | Submitter | nssv3021974 |
| nssv3021974 | copy number gain | IMR283 | BAC aCGH | Probe signal intensity | Intellectual Disability | Uncertain significance | Submitter | nssv3021973 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv3021973 | Remapped | Good | NC_000010.11:g.(12 8801737_?)_(133787 422_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 128,801,737 | 133,787,422 | - |
| nssv3021974 | Remapped | Good | NC_000013.11:g.(10 9647654_?)_(114344 403_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 109,647,654 | 114,344,403 | - |
| nssv3021973 | Submitted cytogenetic | NC_000010.10:g.(13 0600001_?)_(?_1355 34747)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 130,600,001 | - | 135,534,747 | ||
| nssv3021974 | Submitted cytogenetic | NC_000013.10:g.(11 0300001_?)_(?_1151 69878)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 110,300,001 | - | 115,169,878 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv3021973 | 3 | IMR283 | FISH | Probe signal intensity | Pass |
| nssv3021974 | 3 | IMR283 | FISH | Probe signal intensity | Pass |
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv3021973 | IMR283 | GRCh37: NC_000010.10:g.(130600001_?)_(?_135534747)del | copy number loss | Intellectual Disability | Uncertain significance | Submitter | nssv3021974 |
| nssv3021974 | IMR283 | GRCh37: NC_000013.10:g.(110300001_?)_(?_115169878)dup | copy number gain | Intellectual Disability | Uncertain significance | Submitter | nssv3021973 |