nsv7094199
- 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:1,894
- Description:NC_000012.11:g.(?_116418535)_(116420428_?)del AND Transposition of the great arteries, dextro-looped
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 75 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 23 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7094199 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 115,980,730 | 115,982,623 |
nsv7094199 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 116,418,535 | 116,420,428 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18786731 | deletion | Multiple | Multiple | Congenitally uncorrected transposition of the great arteries; TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1; Transposition of the great arteries, dextro-looped 1 | Pathogenic | ClinVar | RCV003119576.1, VCV002426138.4 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18786731 | Remapped | Perfect | NC_000012.12:g.(?_ 115980730)_(115982 623_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 115,980,730 | 115,982,623 |
nssv18786731 | Submitted genomic | NC_000012.11:g.(?_ 116418535)_(116420 428_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 116,418,535 | 116,420,428 |
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 |
---|---|---|---|---|---|---|---|
nssv18786731 | GRCh37: NC_000012.11:g.(?_116418535)_(116420428_?)del | deletion | germline | Congenitally uncorrected transposition of the great arteries; TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1; Transposition of the great arteries, dextro-looped 1 | Pathogenic | ClinVar | RCV003119576.1, VCV002426138.4 |