nsv4682660
- 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:76,789
- Description:NC_000006.12:g.64349976_64426764del AND Retinitis pigmentosa
- Publication(s):Bakondi et al. 2015, Fahim et al. 2000, Ramsden et al. 2012
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 267 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 267 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4682660 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 64,349,974 | 64,426,762 |
| nsv4682660 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 65,059,867 | 65,136,655 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214772 | deletion | Multiple | Multiple | RETINITIS PIGMENTOSA; RP; Retinitis Pigmentosa; Retinitis pigmentosa; Retinitis pigmentosa; Retinitis pigmentosa; Rod-cone dystrophy | Pathogenic | ClinVar | RCV001003020.1, VCV000812315.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16214772 | Remapped | Perfect | NC_000006.12:g.643 49974_64426762del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 64,349,974 | 64,426,762 |
| nssv16214772 | Submitted genomic | NC_000006.11:g.650 59867_65136655del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 65,059,867 | 65,136,655 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16214772 | GRCh37: NC_000006.11:g.65059867_65136655del | deletion | inherited | RETINITIS PIGMENTOSA; RP; Retinitis Pigmentosa; Retinitis pigmentosa; Retinitis pigmentosa; Retinitis pigmentosa; Rod-cone dystrophy | Pathogenic | ClinVar | RCV001003020.1, VCV000812315.1 |