nsv4578690
- 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:1,893
- Description:GRCh38/hg38 19p13.3(chr19:1508507-1510399)x0 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: 229 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 229 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4578690 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 1,508,507 | 1,510,399 |
| nsv4578690 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 1,508,506 | 1,510,398 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8639535 | copy number loss | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207273.3, VCV000221396.3 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv8639535 | Submitted genomic | NC_000019.10:g.150 8507_1510399del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 1,508,507 | 1,510,399 |
| nssv8639535 | Submitted genomic | NC_000019.9:g.1508 506_1510398del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,508,506 | 1,510,398 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv8639535 | GRCh37: NC_000019.9:g.1508506_1510398del, GRCh38: NC_000019.10:g.1508507_1510399del | copy number loss | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207273.3, VCV000221396.3 | 0 |