nsv5672730
- 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:248,945
- Description:NC_000014.8:g.(?_21756136)_(22005055_?)del AND multiple conditions
- Publication(s):Kumaran et al. 2018
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 973 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 976 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672730 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 21,287,977 | 21,536,921 |
| nsv5672730 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 21,756,136 | 22,005,055 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17173305 | deletion | Multiple | Multiple | CONE-ROD DYSTROPHY 13; CORD13; Cone rod dystrophy; Cone-rod dystrophy 13; LEBER CONGENITAL AMAUROSIS 6; LCA6; Leber congenital amaurosis; Leber congenital amaurosis 6 | Pathogenic | ClinVar | RCV001388561.4, VCV001075073.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17173305 | Remapped | Good | NC_000014.9:g.(?_2 1287977)_(21536921 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 21,287,977 | 21,536,921 |
| nssv17173305 | Submitted genomic | NC_000014.8:g.(?_2 1756136)_(22005055 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 21,756,136 | 22,005,055 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17173305 | GRCh37: NC_000014.8:g.(?_21756136)_(22005055_?)del | deletion | germline | CONE-ROD DYSTROPHY 13; CORD13; Cone rod dystrophy; Cone-rod dystrophy 13; LEBER CONGENITAL AMAUROSIS 6; LCA6; Leber congenital amaurosis; Leber congenital amaurosis 6 | Pathogenic | ClinVar | RCV001388561.4, VCV001075073.4 |