nsv7095414
- 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:1,069,952
- Description:NC_000017.10:g.(?_7123304)_(8193254_?)del AND Very long chain acyl-CoA dehydrogenase deficiency
- Publication(s):Leslie et al. 2009
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3761 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 3762 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095414 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 7,219,985 | 8,289,936 |
| nsv7095414 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 7,123,304 | 8,193,254 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18790980 | deletion | Multiple | Multiple | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD; Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency; Very long chain acyl-CoA dehydrogenase deficiency; Very long chain acyl-CoA dehydrogenase deficiency | Pathogenic | ClinVar | RCV003119081.2, VCV002422139.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18790980 | Remapped | Perfect | NC_000017.11:g.(?_ 7219985)_(8289936_ ?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 7,219,985 | 8,289,936 |
| nssv18790980 | Submitted genomic | NC_000017.10:g.(?_ 7123304)_(8193254_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 7,123,304 | 8,193,254 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18790980 | GRCh37: NC_000017.10:g.(?_7123304)_(8193254_?)del | deletion | germline | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD; Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency; Very long chain acyl-CoA dehydrogenase deficiency; Very long chain acyl-CoA dehydrogenase deficiency | Pathogenic | ClinVar | RCV003119081.2, VCV002422139.3 |