nsv3886530
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:61,692
- Description:NC_000008.11:g.52623770_52685461del AND Breast adenocarcinoma
- Publication(s):Chano et al. 2002
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 320 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 320 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3886530 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 52,623,768 | 52,685,459 |
| nsv3886530 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 53,536,328 | 53,598,019 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15119654 | deletion | Multiple | Multiple | Breast adenocarcinoma | Pathogenic | ClinVar | RCV000004182.5, VCV000003976.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15119654 | Submitted genomic | NC_000008.11:g.526 23768_52685459del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 52,623,768 | 52,685,459 |
| nssv15119654 | Submitted genomic | NC_000008.10:g.535 36328_53598019del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 53,536,328 | 53,598,019 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15119654 | GRCh37: NC_000008.10:g.53536328_53598019del, GRCh38: NC_000008.11:g.52623768_52685459del | deletion | somatic | Breast adenocarcinoma | Pathogenic | ClinVar | RCV000004182.5, VCV000003976.1 |