nsv7095636
- 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:7,164
- Description:NC_000001.10:g.(?_76198435)_(76205598_?)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: 144 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 144 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7095636 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 75,732,750 | 75,739,913 |
nsv7095636 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 76,198,435 | 76,205,598 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18790974 | 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 | RCV003119075.2, VCV002422133.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18790974 | Remapped | Perfect | NC_000001.11:g.(?_ 75732750)_(7573991 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 75,732,750 | 75,739,913 |
nssv18790974 | Submitted genomic | NC_000001.10:g.(?_ 76198435)_(7620559 8_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 76,198,435 | 76,205,598 |
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 |
---|---|---|---|---|---|---|---|
nssv18790974 | GRCh37: NC_000001.10:g.(?_76198435)_(76205598_?)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 | RCV003119075.2, VCV002422133.2 |