nsv1398289
- 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:109,479
- Description:GRCh38/hg38 9q34.3(chr9:135665886-135775364)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: 644 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 644 SVs from 74 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv1398289 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 135,665,886 | 135,775,364 |
| nsv1398289 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 138,557,731 | 138,667,209 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8639642 | copy number loss | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207248.1, VCV000221387.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv8639642 | Submitted genomic | NC_000009.12:g.135 665886_135775364de l | GRCh38 (hg38) | NC_000009.12 | Chr9 | 135,665,886 | 135,775,364 |
| nssv8639642 | Submitted genomic | NC_000009.11:g.138 557731_138667209de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 138,557,731 | 138,667,209 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv8639642 | GRCh37: NC_000009.11:g.138557731_138667209del, GRCh38: NC_000009.12:g.135665886_135775364del | copy number loss | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207248.1, VCV000221387.1 | 1 |