nsv4685610
- 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:178
- Description:GRCh37/hg19 1q42.13(chr1:227149087-227149264) AND Autosomal recessive ataxia due to ubiquinone deficiency
- Publication(s):Salviati et al. 2017, Yuan et al. 2020
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 104 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685610 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 226,961,386 | 226,961,563 |
| nsv4685610 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 227,149,087 | 227,149,264 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16216510 | copy number loss | 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 | RCV001195130.1, VCV000915977.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216510 | Remapped | Perfect | NC_000001.11:g.(?_ 226961386)_(226961 563_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 226,961,386 | 226,961,563 |
| nssv16216510 | Submitted genomic | NC_000001.10:g.(?_ 227149087)_(227149 264_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 227,149,087 | 227,149,264 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16216510 | GRCh37: NC_000001.10:g.(?_227149087)_(227149264_?)del | copy number loss | unknown | Autosomal recessive ataxia due to ubiquinone deficiency; COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4; Coenzyme Q10 deficiency, primary, 4; Primary Coenzyme Q10 Deficiency | Pathogenic | ClinVar | RCV001195130.1, VCV000915977.1 |