nsv6314822
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:12,929
- Description:Single allele AND Chorea-acanthocytosis
- Publication(s):Velayos Baeza et al. 2002
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 82 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314822 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 77,246,154 | 77,259,082 | ||
| nsv6314822 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 79,861,070 | 79,873,998 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976267 | deletion | Multiple | Multiple | CHOREOACANTHOCYTOSIS; CHAC; Chorea-Acanthocytosis; Choreoacanthocytosis; Choreoacanthocytosis | Likely pathogenic | ClinVar | RCV002247738.2, VCV001684650.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976267 | Submitted genomic | NC_000009.12:g.772 46154_77259082del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 77,246,154 | 77,259,082 | ||
| nssv17976267 | Remapped | Perfect | NC_000009.11:g.798 61070_79873998del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 79,861,070 | 79,873,998 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976267 | GRCh38: NC_000009.12:g.77246154_77259082del | deletion | germline | CHOREOACANTHOCYTOSIS; CHAC; Chorea-Acanthocytosis; Choreoacanthocytosis; Choreoacanthocytosis | Likely pathogenic | ClinVar | RCV002247738.2, VCV001684650.2 |