nsv6310828
- 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:16,986
- Description:NC_000001.10:g.(?_76211473)_(76228458_?)del AND Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Publication(s):Matern et al. 2000
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 155 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 35 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6310828 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 75,745,788 | 75,762,773 |
nsv6310828 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 76,211,473 | 76,228,458 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17974381 | deletion | Multiple | Multiple | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD; Medium chain acyl-CoA dehydrogenase deficiency; Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency; Medium-chain acyl-coenzyme A dehydrogenase deficiency | Pathogenic | ClinVar | RCV001887402.4, VCV001396357.4 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17974381 | Remapped | Perfect | NC_000001.11:g.(?_ 75745788)_(7576277 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 75,745,788 | 75,762,773 |
nssv17974381 | Submitted genomic | NC_000001.10:g.(?_ 76211473)_(7622845 8_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 76,211,473 | 76,228,458 |
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 |
---|---|---|---|---|---|---|---|
nssv17974381 | GRCh37: NC_000001.10:g.(?_76211473)_(76228458_?)del | deletion | germline | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD; Medium chain acyl-CoA dehydrogenase deficiency; Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency; Medium-chain acyl-coenzyme A dehydrogenase deficiency | Pathogenic | ClinVar | RCV001887402.4, VCV001396357.4 |