nsv4436028
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex substitution
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,173
- Description:chr2:130949553-130952725 complex variant 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: 308 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 308 SVs from 56 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4436028 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 130,191,980 | 130,195,152 |
| nsv4436028 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 130,949,553 | 130,952,725 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15754751 | complex substitution | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207205.1, VCV000221361.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv15754751 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 130,191,980 | 130,195,152 |
| nssv15754751 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 130,949,553 | 130,952,725 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|
| nssv15754751 | complex substitution | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207205.1, VCV000221361.1 |