nsv3870605
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:8,807
- Description:NC_000011.10:g.(?_108280995)_(108289801_?)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: 122 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3870605 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 108,280,995 | 108,289,801 |
| nsv3870605 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 108,151,722 | 108,160,528 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15128548 | deletion | Multiple | Multiple | ATAXIA-TELANGIECTASIA; AT; Ataxia-telangiectasia; Ataxia-telangiectasia syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000458568.1, VCV000417587.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15128548 | Submitted genomic | NC_000011.10:g.(?_ 108280995)_(108289 801_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 108,280,995 | 108,289,801 |
| nssv15128548 | Submitted genomic | NC_000011.9:g.(?_1 08151722)_(1081605 28_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 108,151,722 | 108,160,528 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15128548 | GRCh37: NC_000011.9:g.(?_108151722)_(108160528_?)del, GRCh38: NC_000011.10:g.(?_108280995)_(108289801_?)del | deletion | germline | ATAXIA-TELANGIECTASIA; AT; Ataxia-telangiectasia; Ataxia-telangiectasia syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000458568.1, VCV000417587.1 |