nsv5673052
- 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:538,931
- Description:NC_000017.10:g.(?_6589506)_(7128436_?)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: 1863 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1863 SVs from 90 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673052 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 6,686,187 | 7,225,117 |
| nsv5673052 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 6,589,506 | 7,128,436 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17172000 | 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 | RCV001391032.1, VCV001076973.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17172000 | Remapped | Perfect | NC_000017.11:g.(?_ 6686187)_(7225117_ ?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,686,187 | 7,225,117 |
| nssv17172000 | Submitted genomic | NC_000017.10:g.(?_ 6589506)_(7128436_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,589,506 | 7,128,436 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17172000 | GRCh37: NC_000017.10:g.(?_6589506)_(7128436_?)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 | RCV001391032.1, VCV001076973.1 |