nsv1398134
- 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:29,260
- Description:GRCh37/hg19 10p12.1(chr10:27326892-27356151)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: 138 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 138 SVs from 28 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv1398134 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 27,037,963 | 27,067,222 |
nsv1398134 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 27,326,892 | 27,356,151 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv8639485 | copy number gain | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207234.1, VCV000221473.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv8639485 | Remapped | Perfect | NC_000010.11:g.270 37963_27067222dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 27,037,963 | 27,067,222 |
nssv8639485 | Submitted genomic | NC_000010.10:g.273 26892_27356151dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 27,326,892 | 27,356,151 |
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 |
---|---|---|---|---|---|---|---|---|
nssv8639485 | GRCh37: NC_000010.10:g.27326892_27356151dup | copy number gain | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207234.1, VCV000221473.1 | 3 |