nsv4684388
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:delins
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,128
- Description:NM_006941.4(SOX10):c.698-740_1085delinsCCT AND Waardenburg syndrome type 4C
- Publication(s):Bondurand et al. 2007
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 52 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 52 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4684388 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 37,973,811 | 37,974,938 |
| nsv4684388 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 38,369,818 | 38,370,945 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15119688 | delins | Multiple | Multiple | WAARDENBURG SYNDROME, TYPE 4C; WS4C; Waardenburg syndrome type 4C; Waardenburg-Shah syndrome | Pathogenic | ClinVar | RCV000007829.10, VCV000007404.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15119688 | Submitted genomic | NC_000022.11:g.379 73811_37974938deli nsAGG | GRCh38 (hg38) | NC_000022.11 | Chr22 | 37,973,811 | 37,974,938 |
| nssv15119688 | Submitted genomic | NC_000022.10:g.383 69818_38370945deli nsAGG | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,369,818 | 38,370,945 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15119688 | GRCh37: NC_000022.10:g.38369818_38370945delinsAGG, GRCh38: NC_000022.11:g.37973811_37974938delinsAGG | delins | germline | WAARDENBURG SYNDROME, TYPE 4C; WS4C; Waardenburg syndrome type 4C; Waardenburg-Shah syndrome | Pathogenic | ClinVar | RCV000007829.10, VCV000007404.3 |