nsv4450425
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:954,614
- Description:
See descriptions for individual calls in download files - 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: 3192 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 3194 SVs from 89 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4450425 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 127,612,384 | 128,566,997 |
| nsv4450425 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 130,374,663 | 131,329,276 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15774106 | deletion | Multiple | Multiple | Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile | Pathogenic | ClinVar | RCV000819894.5, VCV000662282.11 |
| nssv17171648 | deletion | Multiple | Multiple | COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Primary Coenzyme Q10 Deficiency | Pathogenic | ClinVar | RCV001387712.8, VCV000662282.11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15774106 | Submitted genomic | NC_000009.12:g.(?_ 127612384)_(128566 997_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 127,612,384 | 128,566,997 |
| nssv17171648 | Submitted genomic | NC_000009.12:g.(?_ 127612384)_(128566 997_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 127,612,384 | 128,566,997 |
| nssv15774106 | Submitted genomic | NC_000009.11:g.(?_ 130374663)_(131329 276_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 130,374,663 | 131,329,276 |
| nssv17171648 | Submitted genomic | NC_000009.11:g.(?_ 130374663)_(131329 276_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 130,374,663 | 131,329,276 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15774106 | GRCh37: NC_000009.11:g.(?_130374663)_(131329276_?)del, GRCh38: NC_000009.12:g.(?_127612384)_(128566997_?)del | deletion | germline | Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile | Pathogenic | ClinVar | RCV000819894.5, VCV000662282.11 |
| nssv17171648 | GRCh37: NC_000009.11:g.(?_130374663)_(131329276_?)del, GRCh38: NC_000009.12:g.(?_127612384)_(128566997_?)del | deletion | germline | COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Primary Coenzyme Q10 Deficiency | Pathogenic | ClinVar | RCV001387712.8, VCV000662282.11 |