nsv5673972
- 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:127,183
- Description:NC_000023.10:g.118373226_118500408del AND Developmental cataract
- Publication(s):Jones et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 359 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 359 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673972 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 119,239,263 | 119,366,445 |
| nsv5673972 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 118,373,226 | 118,500,408 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17172029 | deletion | Multiple | Multiple | Congenital cataract; Developmental cataract | Pathogenic | ClinVar | RCV001376649.1, VCV000988887.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17172029 | Remapped | Perfect | NC_000023.11:g.119 239263_119366445de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,239,263 | 119,366,445 |
| nssv17172029 | Submitted genomic | NC_000023.10:g.118 373226_118500408de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,373,226 | 118,500,408 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17172029 | GRCh37: NC_000023.10:g.118373226_118500408del | deletion | germline | Congenital cataract; Developmental cataract | Pathogenic | ClinVar | RCV001376649.1, VCV000988887.1 |