nsv5673314
- 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:823,478
- Description:NC_000001.10:g.(?_196918585)_(197742062_?)del AND multiple conditions
- Publication(s):Fahim et al. 2000, 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: 1866 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1866 SVs from 95 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5673314 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 196,949,455 | 197,772,932 |
nsv5673314 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 196,918,585 | 197,742,062 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17171912 | deletion | Multiple | Multiple | LEBER CONGENITAL AMAUROSIS 8; LCA8; Leber congenital amaurosis; Leber congenital amaurosis 8; RETINITIS PIGMENTOSA 12; RP12; Retinitis pigmentosa; Retinitis pigmentosa 12 | Pathogenic | ClinVar | RCV001390231.1, VCV001076360.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17171912 | Remapped | Perfect | NC_000001.11:g.(?_ 196949455)_(197772 932_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 196,949,455 | 197,772,932 |
nssv17171912 | Submitted genomic | NC_000001.10:g.(?_ 196918585)_(197742 062_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 196,918,585 | 197,742,062 |
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 |
---|---|---|---|---|---|---|---|
nssv17171912 | GRCh37: NC_000001.10:g.(?_196918585)_(197742062_?)del | deletion | germline | LEBER CONGENITAL AMAUROSIS 8; LCA8; Leber congenital amaurosis; Leber congenital amaurosis 8; RETINITIS PIGMENTOSA 12; RP12; Retinitis pigmentosa; Retinitis pigmentosa 12 | Pathogenic | ClinVar | RCV001390231.1, VCV001076360.1 |