nsv997203
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:178,144
- Description:RB1
- Publication(s):Dunn et al. 1989, Lohmann et al. 1996, Riggs et al. 2011, Yandell et al. 1989
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 506 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 506 SVs from 57 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv997203 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 48,303,747 | 48,481,890 |
| nsv997203 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 48,877,883 | 49,056,026 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv3442670 | copy number loss | Curated | Curated | RETINOBLASTOMA; RB1 | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3442670 | Remapped | Perfect | NC_000013.11:g.(?_ 48303747)_(4848189 0_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 48,303,747 | 48,481,890 |
| nssv3442670 | Submitted genomic | NC_000013.10:g.(?_ 48877883)_(4905602 6_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 48,877,883 | 49,056,026 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv3442670 | GRCh37: NC_000013.10:g.(?_48877883)_(49056026_?)del | copy number loss | RETINOBLASTOMA; RB1 | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |