nsv4436018
- 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:985,475
- Description:chr17:45008570..45994044 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: 2881 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 2881 SVs from 101 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4436018 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,931,204 | 47,916,678 |
| nsv4436018 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 45,008,570 | 45,994,044 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15754753 | complex substitution | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207217.1, VCV000221347.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv15754753 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,931,204 | 47,916,678 |
| nssv15754753 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 45,008,570 | 45,994,044 |
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 |
|---|---|---|---|---|---|---|
| nssv15754753 | complex substitution | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207217.1, VCV000221347.1 |