nsv6137865
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI35
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:54,092
- Description:
See descriptions for individual calls in download files - Publication(s):Berliner et al. 2012, Cybulski et al. 2006, Walsh et al. 2006
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 287 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 287 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 13 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6137865 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 28,687,743 | 28,741,834 |
| nsv6137865 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 29,083,731 | 29,137,822 |
| nsv6137865 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 27,408,285 | 27,462,376 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17683642 | deletion | Multiple | Multiple | Breast cancer, susceptibility to | risk factor | ClinVar | RCV000005949.3, VCV000005601.1 |
| nssv17683643 | deletion | Multiple | Multiple | Prostate cancer, susceptibility to | risk factor | ClinVar | RCV000005950.3, VCV000005601.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17683642 | Remapped | Perfect | NC_000022.11:g.286 87743_28741834del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 28,687,743 | 28,741,834 |
| nssv17683643 | Remapped | Perfect | NC_000022.11:g.286 87743_28741834del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 28,687,743 | 28,741,834 |
| nssv17683642 | Remapped | Perfect | NC_000022.10:g.290 83731_29137822del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 29,083,731 | 29,137,822 |
| nssv17683643 | Remapped | Perfect | NC_000022.10:g.290 83731_29137822del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 29,083,731 | 29,137,822 |
| nssv17683642 | Submitted genomic | NC_000022.8:g.2740 8285_27462376del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 27,408,285 | 27,462,376 | ||
| nssv17683643 | Submitted genomic | NC_000022.8:g.2740 8285_27462376del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 27,408,285 | 27,462,376 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17683642 | NCBI35: NC_000022.8:g.27408285_27462376del | deletion | germline | Breast cancer, susceptibility to | risk factor | ClinVar | RCV000005949.3, VCV000005601.1 |
| nssv17683643 | NCBI35: NC_000022.8:g.27408285_27462376del | deletion | germline | Prostate cancer, susceptibility to | risk factor | ClinVar | RCV000005950.3, VCV000005601.1 |