nsv3880906
- 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:44,680
- Description:NC_000001.10:g.227150977_227195656del44680 AND Autosomal recessive ataxia due to ubiquinone deficiency
- Publication(s):Salviati et al. 2017
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 277 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 278 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3880906 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 226,963,276 | 227,007,955 |
| nsv3880906 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 227,150,977 | 227,195,656 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15147772 | deletion | Multiple | Multiple | Autosomal recessive ataxia due to ubiquinone deficiency; COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4; Coenzyme Q10 deficiency, primary, 4; Primary Coenzyme Q10 Deficiency | Pathogenic | ClinVar | RCV000416405.1, VCV000375332.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15147772 | Submitted genomic | NC_000001.11:g.226 963276_227007955de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 226,963,276 | 227,007,955 |
| nssv15147772 | Submitted genomic | NC_000001.10:g.227 150977_227195656de l | GRCh37 (hg19) | NC_000001.10 | Chr1 | 227,150,977 | 227,195,656 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15147772 | GRCh37: NC_000001.10:g.227150977_227195656del, GRCh38: NC_000001.11:g.226963276_227007955del | deletion | germline | Autosomal recessive ataxia due to ubiquinone deficiency; COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4; Coenzyme Q10 deficiency, primary, 4; Primary Coenzyme Q10 Deficiency | Pathogenic | ClinVar | RCV000416405.1, VCV000375332.1 |