nsv5672644
- 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:10,126
- Description:NC_000012.11:g.(?_33021851)_(33031976_?)del AND Arrhythmogenic right ventricular dysplasia 9
- Publication(s):ACMG Board of Directors et al. 2014, Green et al. 2013, Kalia et al. 2016, McNally et al. 2005, Miller et al. 2021, Miller et al. 2022
- ClinVar: RCV001389120.1
- ClinVar: VCV001075516.1
- GeneReviews: NBK1131
- MONDO: 0012180
- MedGen: C1836906
- OMIM: 602861.0001
- OMIM: 602861.0002
- OMIM: 602861.0003
- OMIM: 602861.0004
- OMIM: 609040
- PubMed: 20301310
- PubMed: 23788249
- PubMed: 25356965
- PubMed: 27854360
- PubMed: 34012068
- PubMed: 35802134
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 100 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 100 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672644 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 32,868,917 | 32,879,042 |
| nsv5672644 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 33,021,851 | 33,031,976 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17171760 | deletion | Multiple | Multiple | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9; Arrhythmogenic Right Ventricular Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy, type 9; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001389120.1, VCV001075516.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17171760 | Remapped | Perfect | NC_000012.12:g.(?_ 32868917)_(3287904 2_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 32,868,917 | 32,879,042 |
| nssv17171760 | Submitted genomic | NC_000012.11:g.(?_ 33021851)_(3303197 6_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 33,021,851 | 33,031,976 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17171760 | GRCh37: NC_000012.11:g.(?_33021851)_(33031976_?)del | deletion | germline | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9; Arrhythmogenic Right Ventricular Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy, type 9; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001389120.1, VCV001075516.1 |