nsv1398576
- 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:41,467
- Description:
Single allele AND Spinocerebellar ataxia, X-linked - Publication(s):Protasova et al. 2015
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 159 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 159 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1398576 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 77,934,509 | 77,975,975 |
| nsv1398576 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 77,190,006 | 77,231,471 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv8639933 | deletion | Multiple | Multiple | Spinocerebellar ataxia, X-linked | protective | ClinVar | RCV000190540.1, VCV000208534.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv8639933 | Remapped | Good | NC_000023.11:g.779 34509_77975975del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 77,934,509 | 77,975,975 |
| nssv8639933 | Submitted genomic | NC_000023.10:g.771 90006_77231471del | GRCh37 (hg19) | NC_000023.10 | ChrX | 77,190,006 | 77,231,471 |
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 |
|---|---|---|---|---|---|---|---|
| nssv8639933 | GRCh37: NC_000023.10:g.77190006_77231471del | deletion | maternal | Spinocerebellar ataxia, X-linked | protective | ClinVar | RCV000190540.1, VCV000208534.1 |