nsv4685868
- 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:2,885,671
- Description:Single allele AND Retinitis pigmentosa 3
- Publication(s):Fahim et al. 2000
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3441 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 3405 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685868 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 35,802,083 | 38,687,753 |
| nsv4685868 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 35,820,200 | 38,547,007 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16216872 | deletion | Multiple | Multiple | RETINITIS PIGMENTOSA 3; RP3; Retinitis pigmentosa; Retinitis pigmentosa 15 | Pathogenic | ClinVar | RCV001251576.1, VCV000975141.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216872 | Remapped | Pass | NC_000023.11:g.(?_ 35802083)_(3868775 3_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 35,802,083 | 38,687,753 |
| nssv16216872 | Submitted genomic | NC_000023.10:g.(?_ 35820200)_(3854700 7_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 35,820,200 | 38,547,007 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16216872 | GRCh37: NC_000023.10:g.(?_35820200)_(38547007_?)del | deletion | germline | RETINITIS PIGMENTOSA 3; RP3; Retinitis pigmentosa; Retinitis pigmentosa 15 | Pathogenic | ClinVar | RCV001251576.1, VCV000975141.1 |