nsv4683841
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:24,876
- Description:
See descriptions for individual calls in download files - Publication(s):ACMG Board of Directors et al. 2014, American College of Obstetricians and Gynecologists et al. 2009, American Society of Clinical Oncology et al. 2003, Berliner et al. 2007, Berliner et al. 2012, Berliner et al. 2021, Green et al. 2013, Kalia et al. 2016, Lu et al. 2014, Moyer et al. 2014, Nelson et al. 2013, Nelson et al. 2019, No authors et al. 2014, No authors et al. 2021, Petrucelli et al. 1998, Phillips et al. 2013, Robson et al. 2010, Robson et al. 2015, Saslow et al. 2007, Stratton et al. 2008, Trepanier et al. 2004, US Preventive Services Task Force et al. 2019
- ClinVar: RCV001032396.2
- ClinVar: RCV001381173.2
- ClinVar: VCV000831869.2
- ClinVar: VCV001069352.2
- GeneReviews: NBK1247
- MONDO: 0003582
- MeSH: D061325
- MedGen: C0677776
- OMIM: PS604370
- Orphanet: 145
- PubMed: 12692171
- PubMed: 15604628
- PubMed: 17392385
- PubMed: 17508274
- PubMed: 18163131
- PubMed: 19305347
- PubMed: 20065170
- PubMed: 20301425
- PubMed: 23188549
- PubMed: 23788249
- PubMed: 23918944
- PubMed: 24366376
- PubMed: 24366402
- PubMed: 24432435
- PubMed: 24493721
- PubMed: 25356965
- PubMed: 26324357
- PubMed: 26389258
- PubMed: 27854360
- PubMed: 31429903
- PubMed: 31479213
- PubMed: 33410258
- Overlapping Genes
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: 241 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 241 SVs from 37 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683841 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 43,090,924 | 43,115,799 |
| nsv4683841 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 41,242,941 | 41,267,816 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16213961 | duplication | Multiple | Multiple | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; Breast-ovarian cancer, familial, susceptibility to; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome | Likely pathogenic | ClinVar | RCV001032396.2, VCV000831869.2 |
| nssv17172510 | deletion | Multiple | Multiple | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; Breast-ovarian cancer, familial, susceptibility to; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome | Pathogenic | ClinVar | RCV001381173.2, VCV001069352.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16213961 | Remapped | Perfect | NC_000017.11:g.(?_ 43090924)_(4311579 9_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 43,090,924 | 43,115,799 |
| nssv17172510 | Remapped | Perfect | NC_000017.11:g.(?_ 43090924)_(4311579 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 43,090,924 | 43,115,799 |
| nssv16213961 | Submitted genomic | NC_000017.10:g.(?_ 41242941)_(4126781 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 41,242,941 | 41,267,816 | ||
| nssv17172510 | Submitted genomic | NC_000017.10:g.(?_ 41242941)_(4126781 6_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 41,242,941 | 41,267,816 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16213961 | GRCh37: NC_000017.10:g.(?_41242941)_(41267816_?)dup | duplication | germline | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; Breast-ovarian cancer, familial, susceptibility to; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome | Likely pathogenic | ClinVar | RCV001032396.2, VCV000831869.2 |
| nssv17172510 | GRCh37: NC_000017.10:g.(?_41242941)_(41267816_?)del | deletion | germline | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; Breast-ovarian cancer, familial, susceptibility to; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome | Pathogenic | ClinVar | RCV001381173.2, VCV001069352.2 |