nsv1398546
- 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:212,140
- Description:GRCh38/hg38 16q22.2(chr16:70855202-71067341)x1 AND Ductal breast carcinoma
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 876 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 876 SVs from 70 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv1398546 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 70,855,202 | 71,067,341 |
| nsv1398546 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 70,889,105 | 71,101,244 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8639902 | copy number loss | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207151.1, VCV000221524.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv8639902 | Submitted genomic | NC_000016.10:g.708 55202_71067341del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 70,855,202 | 71,067,341 |
| nssv8639902 | Submitted genomic | NC_000016.9:g.7088 9105_71101244del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,889,105 | 71,101,244 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8639902 | GRCh37: NC_000016.9:g.70889105_71101244del, GRCh38: NC_000016.10:g.70855202_71067341del | copy number loss | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207151.1, VCV000221524.1 | 1 |