nsv4346875
- 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:127,760
- Description:GRCh37/hg19 1q43(chr1:237413038-237540797) AND Arrhythmogenic right ventricular dysplasia 2
- Publication(s):McNally et al. 2005
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 379 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 380 SVs from 53 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4346875 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 237,249,738 | 237,377,497 |
| nsv4346875 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 237,413,038 | 237,540,797 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605824 | copy number gain | Multiple | Multiple | Arrhythmogenic Right Ventricular Cardiomyopathy; Arrhythmogenic right ventricular dysplasia, familial, 2 | Pathogenic | ClinVar | RCV000767622.1, VCV000625614.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605824 | Remapped | Perfect | NC_000001.11:g.(?_ 237249738)_(237377 497_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 237,249,738 | 237,377,497 |
| nssv15605824 | Submitted genomic | NC_000001.10:g.(?_ 237413038)_(237540 797_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 237,413,038 | 237,540,797 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605824 | GRCh37: NC_000001.10:g.(?_237413038)_(237540797_?)dup | copy number gain | germline | Arrhythmogenic Right Ventricular Cardiomyopathy; Arrhythmogenic right ventricular dysplasia, familial, 2 | Pathogenic | ClinVar | RCV000767622.1, VCV000625614.1 |