nsv4683242
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:717,670
- Description:
See descriptions for individual calls in download files - 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: 1174 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 1174 SVs from 65 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4683242 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 18,641,994 | 19,359,663 |
nsv4683242 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 18,660,114 | 19,377,781 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16214839 | deletion | Multiple | Multiple | PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD; Pyruvate dehydrogenase E1-alpha deficiency | Pathogenic | ClinVar | RCV001033913.1, VCV000833472.2 |
nssv17172004 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001391037.1, VCV000833472.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16214839 | Remapped | Perfect | NC_000023.11:g.(?_ 18641994)_(1935966 3_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 18,641,994 | 19,359,663 |
nssv17172004 | Remapped | Perfect | NC_000023.11:g.(?_ 18641994)_(1935966 3_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 18,641,994 | 19,359,663 |
nssv16214839 | Submitted genomic | NC_000023.10:g.(?_ 18660114)_(1937778 1_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 18,660,114 | 19,377,781 | ||
nssv17172004 | Submitted genomic | NC_000023.10:g.(?_ 18660114)_(1937778 1_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 18,660,114 | 19,377,781 |
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 |
---|---|---|---|---|---|---|---|
nssv16214839 | GRCh37: NC_000023.10:g.(?_18660114)_(19377781_?)del | deletion | germline | PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD; Pyruvate dehydrogenase E1-alpha deficiency | Pathogenic | ClinVar | RCV001033913.1, VCV000833472.2 |
nssv17172004 | GRCh37: NC_000023.10:g.(?_18660114)_(19377781_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001391037.1, VCV000833472.2 |