nsv3878401
- 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:36,900
- Description:nsv1067861 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: 284 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 284 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3878401 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 52,624,761 | 52,661,660 |
| nsv3878401 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 53,537,321 | 53,574,220 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15120121 | deletion | Multiple | Multiple | Breast adenocarcinoma | Pathogenic | ClinVar | RCV000004183.5, VCV000003977.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15120121 | Submitted genomic | NC_000008.11:g.526 24761_52661660del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 52,624,761 | 52,661,660 |
| nssv15120121 | Submitted genomic | NC_000008.10:g.535 37321_53574220del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 53,537,321 | 53,574,220 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15120121 | GRCh37: NC_000008.10:g.53537321_53574220del, GRCh38: NC_000008.11:g.52624761_52661660del | deletion | somatic | Breast adenocarcinoma | Pathogenic | ClinVar | RCV000004183.5, VCV000003977.1 |