nsv5059956
- 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:2
- Description:NC_000012.11:g.120940098_120949687dup AND Coenzyme q10 deficiency, primary, 9
- Publication(s):Malicdan et al. 2018
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 83 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 83 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5059956 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 120,502,294 | 120,502,295 |
| nsv5059956 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 120,940,097 | 120,940,098 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16596286 | duplication | Multiple | Multiple | COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9; coenzyme q10 deficiency, primary, 9 | Pathogenic | ClinVar | RCV001257583.1, VCV000978826.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16596286 | Submitted genomic | NC_000012.12:g.120 502294_120502295du p | GRCh38 (hg38) | NC_000012.12 | Chr12 | 120,502,294 | 120,502,295 |
| nssv16596286 | Submitted genomic | NC_000012.11:g.120 940097_120940098du p | GRCh37 (hg19) | NC_000012.11 | Chr12 | 120,940,097 | 120,940,098 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16596286 | GRCh37: NC_000012.11:g.120940097_120940098dup, GRCh38: NC_000012.12:g.120502294_120502295dup | duplication | germline | COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9; coenzyme q10 deficiency, primary, 9 | Pathogenic | ClinVar | RCV001257583.1, VCV000978826.1 |