nsv1398237
- 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:6,263
- Description:GRCh38/hg38 6p12.2(chr6:52751643-52757905)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: 163 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 163 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv1398237 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 52,751,643 | 52,757,905 |
| nsv1398237 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 52,616,441 | 52,622,703 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8639591 | copy number loss | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207029.1, VCV000221457.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv8639591 | Submitted genomic | NC_000006.12:g.527 51643_52757905del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 52,751,643 | 52,757,905 |
| nssv8639591 | Submitted genomic | NC_000006.11:g.526 16441_52622703del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 52,616,441 | 52,622,703 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv8639591 | GRCh37: NC_000006.11:g.52616441_52622703del, GRCh38: NC_000006.12:g.52751643_52757905del | copy number loss | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207029.1, VCV000221457.1 | 1 |