nsv6314975
- 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:9,284
- Description:NM_001370524.1(TMIE):c.-507_-66-2329del AND Autosomal recessive nonsyndromic hearing loss 6
- Publication(s):Shearer et al. 1999
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 114 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6314975 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 46,694,176 | 46,703,459 |
| nsv6314975 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 46,735,666 | 46,744,949 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976471 | deletion | Multiple | Multiple | Autosomal recessive non syndromic sensorineural deafness type DFNB; Autosomal recessive nonsyndromic hearing loss 6; DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6 | Pathogenic | ClinVar | RCV002259404.6, VCV001342310.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17976471 | Submitted genomic | NC_000003.12:g.466 94176_46703459del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 46,694,176 | 46,703,459 |
| nssv17976471 | Submitted genomic | NC_000003.11:g.467 35666_46744949del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 46,735,666 | 46,744,949 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976471 | GRCh37: NC_000003.11:g.46735666_46744949del, GRCh38: NC_000003.12:g.46694176_46703459del | deletion | biparental | Autosomal recessive non syndromic sensorineural deafness type DFNB; Autosomal recessive nonsyndromic hearing loss 6; DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6 | Pathogenic | ClinVar | RCV002259404.6, VCV001342310.1 |