nsv1398346
- 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:40,688
- Description:GRCh37/hg19 1p31.1(chr1:84610138-84650825)x6 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: 183 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 39 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv1398346 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 84,144,455 | 84,185,142 |
nsv1398346 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 84,610,138 | 84,650,825 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv8639699 | copy number gain | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207125.1, VCV000221412.1 | 6 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv8639699 | Remapped | Perfect | NC_000001.11:g.841 44455_84185142dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,144,455 | 84,185,142 |
nssv8639699 | Submitted genomic | NC_000001.10:g.846 10138_84650825dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,610,138 | 84,650,825 |
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 |
---|---|---|---|---|---|---|---|---|
nssv8639699 | GRCh37: NC_000001.10:g.84610138_84650825dup | copy number gain | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207125.1, VCV000221412.1 | 6 |