nsv5673024
- 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:106
- Description:NM_000018.4(ACADVL):c.879-88_896del 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: 106 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5673024 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 7,222,579 | 7,222,684 |
| nsv5673024 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 7,125,898 | 7,126,003 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17172248 | 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 | Likely pathogenic | ClinVar | RCV001378846.3, VCV001067547.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17172248 | Submitted genomic | NC_000017.11:g.722 2579_7222684del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 7,222,579 | 7,222,684 |
| nssv17172248 | Submitted genomic | NC_000017.10:g.712 5898_7126003del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 7,125,898 | 7,126,003 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17172248 | GRCh37: NC_000017.10:g.7125898_7126003del, GRCh38: NC_000017.11:g.7222579_7222684del | 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 | Likely pathogenic | ClinVar | RCV001378846.3, VCV001067547.3 |