nsv1398135
- 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:2,921
- Description:GRCh38/hg38 1p36.21(chr1:13272807-13275727)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: 191 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 4390 SVs from 119 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv1398135 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 13,272,807 | 13,275,727 |
| nsv1398135 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 12,780,917 | 13,910,449 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8639489 | copy number loss | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207171.3, VCV000221372.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv8639489 | Submitted genomic | NC_000001.11:g.132 72807_13275727del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 13,272,807 | 13,275,727 |
| nssv8639489 | Submitted genomic | NC_000001.10:g.127 80917_13910449del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,780,917 | 13,910,449 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv8639489 | GRCh37: NC_000001.10:g.12780917_13910449del, GRCh38: NC_000001.11:g.13272807_13275727del | copy number loss | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207171.3, VCV000221372.3 | 1 |