nsv3888111
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:125
- Description:NC_000018.9:g.(?_28673502)_(28673626_?)dup AND Arrhythmogenic right ventricular dysplasia 11
- 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
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 122 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3888111 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 31,093,539 | 31,093,663 |
| nsv3888111 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 28,673,502 | 28,673,626 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15131010 | duplication | Multiple | Multiple | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11; Arrhythmogenic Right Ventricular Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy, type 11; See individual phenotypes in OMIM allelic variants | Likely pathogenic | ClinVar | RCV000644660.1, VCV000536288.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15131010 | Submitted genomic | NC_000018.10:g.(?_ 31093539)_(3109366 3_?)dup | GRCh38 (hg38) | NC_000018.10 | Chr18 | 31,093,539 | 31,093,663 |
| nssv15131010 | Submitted genomic | NC_000018.9:g.(?_2 8673502)_(28673626 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 28,673,502 | 28,673,626 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15131010 | GRCh37: NC_000018.9:g.(?_28673502)_(28673626_?)dup, GRCh38: NC_000018.10:g.(?_31093539)_(31093663_?)dup | duplication | germline | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11; Arrhythmogenic Right Ventricular Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy, type 11; See individual phenotypes in OMIM allelic variants | Likely pathogenic | ClinVar | RCV000644660.1, VCV000536288.1 |