nsv5564410
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:65
- Description:NM_006941.4(SOX10):c.198_262del (p.Lys67fs) AND Waardenburg syndrome type 2E
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 50 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5564410 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 37,983,523 | 37,983,587 |
| nsv5564410 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 38,379,530 | 38,379,594 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17059482 | deletion | Multiple | Multiple | WAARDENBURG SYNDROME, TYPE 2E; WS2E; Waardenburg syndrome; Waardenburg syndrome type 2E | Pathogenic | ClinVar | RCV001353099.8, VCV001048554.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17059482 | Submitted genomic | NC_000022.11:g.379 83523_37983587del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 37,983,523 | 37,983,587 |
| nssv17059482 | Submitted genomic | NC_000022.10:g.383 79530_38379594del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,379,530 | 38,379,594 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17059482 | GRCh37: NC_000022.10:g.38379530_38379594del, GRCh38: NC_000022.11:g.37983523_37983587del | deletion | germline | WAARDENBURG SYNDROME, TYPE 2E; WS2E; Waardenburg syndrome; Waardenburg syndrome type 2E | Pathogenic | ClinVar | RCV001353099.8, VCV001048554.3 |