nsv5672640
- 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:17,674,858
- Description:NC_000011.9:g.(?_94153285)_(111965700_?)del AND Ataxia-telangiectasia syndrome
- Publication(s):Bird et al. 1998, Gasser et al. 2009, Gatti et al. 1999, van de Warrenburg et al. 2014
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 46123 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 46090 SVs from 133 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672640 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 94,420,119 | 112,094,976 |
| nsv5672640 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 94,153,285 | 111,965,700 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17173306 | deletion | Multiple | Multiple | ATAXIA-TELANGIECTASIA; AT; Ataxia-Telangiectasia; Ataxia-telangiectasia; Ataxia-telangiectasia syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001389105.2, VCV001075501.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17173306 | Remapped | Good | NC_000011.10:g.(?_ 94420119)_(1120949 76_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 94,420,119 | 112,094,976 |
| nssv17173306 | Submitted genomic | NC_000011.9:g.(?_9 4153285)_(11196570 0_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 94,153,285 | 111,965,700 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17173306 | GRCh37: NC_000011.9:g.(?_94153285)_(111965700_?)del | deletion | germline | ATAXIA-TELANGIECTASIA; AT; Ataxia-Telangiectasia; Ataxia-telangiectasia; Ataxia-telangiectasia syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001389105.2, VCV001075501.2 |