nsv5674237
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:24,117,906
- Description:GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 AND Partial albinism
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 70951 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 70807 SVs from 137 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5674237 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 51,891,814 | 76,009,719 | ||
| nsv5674237 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 52,757,980 | 76,930,872 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17173265 | copy number loss | Multiple | Multiple | PIEBALD TRAIT; PBT; Partial albinism; Partial albinism; Piebaldism; Piebaldism | Pathogenic | ClinVar | RCV001420508.4, VCV001098574.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17173265 | Submitted genomic | NC_000004.12:g.518 91814_76009719del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 51,891,814 | 76,009,719 | ||
| nssv17173265 | Remapped | Good | NC_000004.11:g.527 57980_76930872del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 52,757,980 | 76,930,872 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17173265 | GRCh38: NC_000004.12:g.51891814_76009719del | copy number loss | germline | PIEBALD TRAIT; PBT; Partial albinism; Partial albinism; Piebaldism; Piebaldism | Pathogenic | ClinVar | RCV001420508.4, VCV001098574.3 | 1 |