nsv4450673
- 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:3,800
- Description:NC_000003.12:g.(?_58428014)_(58431813_?)del AND Pyruvate dehydrogenase E1-beta deficiency
- Publication(s):Ganetzky et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 76 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4450673 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 58,428,014 | 58,431,813 |
| nsv4450673 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 58,413,741 | 58,417,540 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15770524 | deletion | Multiple | Multiple | PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD; Pyruvate dehydrogenase E1-beta deficiency; Pyruvate dehydrogenase E1-beta deficiency; Pyruvate dehydrogenase deficiency | Uncertain significance | ClinVar | RCV000809311.3, VCV000653525.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15770524 | Submitted genomic | NC_000003.12:g.(?_ 58428014)_(5843181 3_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 58,428,014 | 58,431,813 |
| nssv15770524 | Submitted genomic | NC_000003.11:g.(?_ 58413741)_(5841754 0_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 58,413,741 | 58,417,540 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15770524 | GRCh37: NC_000003.11:g.(?_58413741)_(58417540_?)del, GRCh38: NC_000003.12:g.(?_58428014)_(58431813_?)del | deletion | germline | PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD; Pyruvate dehydrogenase E1-beta deficiency; Pyruvate dehydrogenase E1-beta deficiency; Pyruvate dehydrogenase deficiency | Uncertain significance | ClinVar | RCV000809311.3, VCV000653525.3 |