nsv1397902
- 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:50,376
- Description:SDHC
- Publication(s):Bayley et al. 2009, Baysal et al. 2004, Pasini et al. 2007, Riggs et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 242 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 246 SVs from 38 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1397902 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 161,314,376 | 161,364,751 |
| nsv1397902 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 161,284,166 | 161,334,541 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv8635345 | copy number loss | Curated | Curated | PARAGANGLIOMAS 3; PGL3 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv8635345 | Remapped | Perfect | NC_000001.11:g.(?_ 161314376)_(161364 751_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 161,314,376 | 161,364,751 |
| nssv8635345 | Submitted genomic | NC_000001.10:g.(?_ 161284166)_(161334 541_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 161,284,166 | 161,334,541 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv8635345 | GRCh37: NC_000001.10:g.(?_161284166)_(161334541_?)del | copy number loss | PARAGANGLIOMAS 3; PGL3 | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |