nsv6312504
- 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:43,963
- Description:NC_000006.11:g.(?_7542149)_(7586111_?)del AND multiple conditions
- 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: RCV001953871.3
- ClinVar: VCV001457655.5
- GeneReviews: NBK1131
- MONDO: 0011581
- MONDO: 0011831
- MedGen: C1843896
- MedGen: C1854063
- OMIM: 125647.0003
- OMIM: 125647.0012
- OMIM: 125647.0024
- OMIM: 605676
- OMIM: 607450
- Orphanet: 65282
- 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: 201 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 201 SVs from 48 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6312504 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 7,541,916 | 7,585,878 |
| nsv6312504 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 7,542,149 | 7,586,111 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17971427 | deletion | Multiple | Multiple | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8; Arrhythmogenic Right Ventricular Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy, type 8; CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA; DCWHK; Carvajal syndrome; Dilated cardiomyopathy with woolly hair and keratoderma; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001953871.3, VCV001457655.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17971427 | Remapped | Perfect | NC_000006.12:g.(?_ 7541916)_(7585878_ ?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 7,541,916 | 7,585,878 |
| nssv17971427 | Submitted genomic | NC_000006.11:g.(?_ 7542149)_(7586111_ ?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 7,542,149 | 7,586,111 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17971427 | GRCh37: NC_000006.11:g.(?_7542149)_(7586111_?)del | deletion | germline | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8; Arrhythmogenic Right Ventricular Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy, type 8; CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA; DCWHK; Carvajal syndrome; Dilated cardiomyopathy with woolly hair and keratoderma; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001953871.3, VCV001457655.5 |