nsv6308946
- 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:6,648
- Description:NC_000011.9:g.(?_108111148)_(108117795_?)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: 110 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6308946 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 108,240,421 | 108,247,068 |
| nsv6308946 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 108,111,148 | 108,117,795 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17968706 | deletion | Multiple | Multiple | ATAXIA-TELANGIECTASIA; AT; Ataxia-Telangiectasia; Ataxia-telangiectasia; Ataxia-telangiectasia syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001941873.3, VCV001454431.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17968706 | Remapped | Perfect | NC_000011.10:g.(?_ 108240421)_(108247 068_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 108,240,421 | 108,247,068 |
| nssv17968706 | Submitted genomic | NC_000011.9:g.(?_1 08111148)_(1081177 95_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 108,111,148 | 108,117,795 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17968706 | GRCh37: NC_000011.9:g.(?_108111148)_(108117795_?)del | deletion | germline | ATAXIA-TELANGIECTASIA; AT; Ataxia-Telangiectasia; Ataxia-telangiectasia; Ataxia-telangiectasia syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001941873.3, VCV001454431.3 |