nsv6636064
- 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:1,791
- Description:NM_006004.4(UQCRH):c.55-527_243+48del AND Mitochondrial complex 3 deficiency, nuclear type 11
- Publication(s):Vidali et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 106 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6636064 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 46,308,573 | 46,310,363 |
| nsv6636064 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 46,774,245 | 46,776,035 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18328837 | deletion | Multiple | Multiple | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11; MC3DN11; Mitochondrial complex 3 deficiency, nuclear type 11 | Pathogenic | ClinVar | RCV002462821.1, VCV001801224.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18328837 | Submitted genomic | NC_000001.11:g.463 08573_46310363del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 46,308,573 | 46,310,363 |
| nssv18328837 | Submitted genomic | NC_000001.10:g.467 74245_46776035del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 46,774,245 | 46,776,035 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18328837 | GRCh37: NC_000001.10:g.46774245_46776035del, GRCh38: NC_000001.11:g.46308573_46310363del | deletion | germline | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11; MC3DN11; Mitochondrial complex 3 deficiency, nuclear type 11 | Pathogenic | ClinVar | RCV002462821.1, VCV001801224.2 |