nsv1398602
- 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:17,363
- Description:GRCh37/hg19 12q21.2(chr12:76763038-76780400)x4 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: 129 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1398602 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 76,369,258 | 76,386,620 |
| nsv1398602 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 76,763,038 | 76,780,400 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8639957 | copy number gain | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207194.1, VCV000221490.1 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv8639957 | Remapped | Perfect | NC_000012.12:g.763 69258_76386620dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 76,369,258 | 76,386,620 |
| nssv8639957 | Submitted genomic | NC_000012.11:g.767 63038_76780400dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 76,763,038 | 76,780,400 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv8639957 | GRCh37: NC_000012.11:g.76763038_76780400dup | copy number gain | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207194.1, VCV000221490.1 | 4 |