nsv7097690
- 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:9,796,877
- Description:NC_000009.11:g.(?_131087402)_(141016451_?)dup AND Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
- 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: 40375 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 40108 SVs from 131 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097690 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 128,325,123 | 138,121,999 |
| nsv7097690 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 131,087,402 | 141,016,451 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18791383 | duplication | Multiple | Multiple | COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Primary Coenzyme Q10 Deficiency | Uncertain significance | ClinVar | RCV003119700.2, VCV002426262.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18791383 | Remapped | Good | NC_000009.12:g.(?_ 128325123)_(138121 999_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 128,325,123 | 138,121,999 |
| nssv18791383 | Submitted genomic | NC_000009.11:g.(?_ 131087402)_(141016 451_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 131,087,402 | 141,016,451 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18791383 | GRCh37: NC_000009.11:g.(?_131087402)_(141016451_?)dup | duplication | germline | COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Primary Coenzyme Q10 Deficiency | Uncertain significance | ClinVar | RCV003119700.2, VCV002426262.3 |