nsv5673429
- 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:40,704
- Description:
See descriptions for individual calls in download files - Publication(s):Berliner et al. 2007, Burstein et al. 2021, Miller et al. 2021, Miller et al. 2022, Moyer et al. 2014, Nelson et al. 2013, Nelson et al. 2019, No authors et al. 2014, No authors et al. 2021, No authors et al. 2021, Petrucelli et al. 1998, Stratton et al. 2008, Trepanier et al. 2004, US Preventive Services Task Force et al. 2019
- ClinVar: RCV001390749.2
- ClinVar: RCV003109618.2
- ClinVar: VCV001076758.2
- ClinVar: VCV002425694.2
- GeneReviews: NBK1247
- MONDO: 0016419
- MedGen: C0346153
- OMIM: 114480
- PubMed: 15604628
- PubMed: 17508274
- PubMed: 18163131
- PubMed: 20301425
- PubMed: 24366376
- PubMed: 24366402
- PubMed: 24432435
- PubMed: 26389210
- PubMed: 26389258
- PubMed: 31429903
- PubMed: 31479213
- PubMed: 34012068
- PubMed: 34242744
- PubMed: 35802134
- 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: 263 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 263 SVs from 53 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5673429 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 28,694,022 | 28,734,725 |
nsv5673429 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 29,090,010 | 29,130,713 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17171974 | deletion | Multiple | Multiple | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST CANCER; Familial cancer of breast | Pathogenic | ClinVar | RCV001390749.2, VCV001076758.2 |
nssv18788664 | duplication | Multiple | Multiple | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST CANCER; Familial cancer of breast | Uncertain significance | ClinVar | RCV003109618.2, VCV002425694.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17171974 | Remapped | Perfect | NC_000022.11:g.(?_ 28694022)_(2873472 5_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 28,694,022 | 28,734,725 |
nssv18788664 | Remapped | Perfect | NC_000022.11:g.(?_ 28694022)_(2873472 5_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 28,694,022 | 28,734,725 |
nssv17171974 | Submitted genomic | NC_000022.10:g.(?_ 29090010)_(2913071 3_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 29,090,010 | 29,130,713 | ||
nssv18788664 | Submitted genomic | NC_000022.10:g.(?_ 29090010)_(2913071 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 29,090,010 | 29,130,713 |
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 |
---|---|---|---|---|---|---|---|
nssv17171974 | GRCh37: NC_000022.10:g.(?_29090010)_(29130713_?)del | deletion | germline | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST CANCER; Familial cancer of breast | Pathogenic | ClinVar | RCV001390749.2, VCV001076758.2 |
nssv18788664 | GRCh37: NC_000022.10:g.(?_29090010)_(29130713_?)dup | duplication | germline | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST CANCER; Familial cancer of breast | Uncertain significance | ClinVar | RCV003109618.2, VCV002425694.2 |