nsv1398027
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:45,390
- Description:GRCh37/hg19 15q26.1(chr15:90931601-90976990)x3 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: 216 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 50 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv1398027 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 90,388,369 | 90,433,758 |
nsv1398027 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 90,931,601 | 90,976,990 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv8639376 | copy number gain | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207079.1, VCV000221503.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv8639376 | Remapped | Perfect | NC_000015.10:g.903 88369_90433758dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 90,388,369 | 90,433,758 |
nssv8639376 | Submitted genomic | NC_000015.9:g.9093 1601_90976990dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 90,931,601 | 90,976,990 |
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 |
---|---|---|---|---|---|---|---|---|
nssv8639376 | GRCh37: NC_000015.9:g.90931601_90976990dup | copy number gain | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207079.1, VCV000221503.1 | 3 |