nsv6315505
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,656,027
- Description:GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094) AND Hearing impairment
- Publication(s):Alford et al. 2014
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4301 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 4302 SVs from 105 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315505 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 74,105,727 | 75,761,753 |
| nsv6315505 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 74,398,068 | 76,054,094 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976844 | copy number loss | Multiple | Multiple | Hearing impairment; Hearing impairment | Pathogenic | ClinVar | RCV002280767.1, VCV001703679.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976844 | Remapped | Perfect | NC_000015.10:g.(?_ 74105727)_(7576175 3_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 74,105,727 | 75,761,753 |
| nssv17976844 | Submitted genomic | NC_000015.9:g.(?_7 4398068)_(76054094 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 74,398,068 | 76,054,094 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976844 | GRCh37: NC_000015.9:g.(?_74398068)_(76054094_?)del | copy number loss | unknown | Hearing impairment; Hearing impairment | Pathogenic | ClinVar | RCV002280767.1, VCV001703679.1 |