nsv5564293
- 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:277,054
- Description:NC_000012.11:g.(?_32772622)_(33049675_?)dup 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: RCV001374111.1
- ClinVar: VCV001064177.1
- 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: 953 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 953 SVs from 72 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5564293 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 32,619,688 | 32,896,741 |
| nsv5564293 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 32,772,622 | 33,049,675 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17059204 | duplication | 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 | Uncertain significance | ClinVar | RCV001374111.1, VCV001064177.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17059204 | Remapped | Perfect | NC_000012.12:g.(?_ 32619688)_(3289674 1_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 32,619,688 | 32,896,741 |
| nssv17059204 | Submitted genomic | NC_000012.11:g.(?_ 32772622)_(3304967 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 32,772,622 | 33,049,675 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17059204 | GRCh37: NC_000012.11:g.(?_32772622)_(33049675_?)dup | duplication | 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 | Uncertain significance | ClinVar | RCV001374111.1, VCV001064177.1 |