nsv7095776
- 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:14,045
- Description:NC_000001.10:g.(?_201328338)_(201342382_?)dup AND multiple conditions
- Publication(s):ACMG Board of Directors et al. 2014, Cirino et al. 2008, Green et al. 2013, Hershberger et al. 2007, Kalia et al. 2016, Miller et al. 2021, Miller et al. 2022, Pinto et al. 2011
- ClinVar: RCV003105386.2
- ClinVar: VCV002423449.2
- MONDO: 0007266
- MONDO: 0011095
- MONDO: 0012900
- MedGen: C1832243
- MedGen: C1861864
- MedGen: C2676271
- OMIM: 115195
- OMIM: 601494
- OMIM: 612422
- Orphanet: 154
- Orphanet: 54260
- Orphanet: 75249
- PubMed: 20301486
- PubMed: 20301725
- PubMed: 21267010
- 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: 141 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 141 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095776 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 201,359,210 | 201,373,254 |
| nsv7095776 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 201,328,338 | 201,342,382 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18791491 | duplication | Multiple | Multiple | CARDIOMYOPATHY, DILATED, 1D; CMD1D; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2; CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3; Familial hypertrophic cardiomyopathy 2; Familial isolated dilated cardiomyopathy; Familial isolated restrictive cardiomyopathy; Familial restrictive cardiomyopathy 3; Left ventricular noncompaction; Left ventricular noncompaction 6 | Uncertain significance | ClinVar | RCV003105386.2, VCV002423449.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18791491 | Remapped | Perfect | NC_000001.11:g.(?_ 201359210)_(201373 254_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 201,359,210 | 201,373,254 |
| nssv18791491 | Submitted genomic | NC_000001.10:g.(?_ 201328338)_(201342 382_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 201,328,338 | 201,342,382 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18791491 | GRCh37: NC_000001.10:g.(?_201328338)_(201342382_?)dup | duplication | germline | CARDIOMYOPATHY, DILATED, 1D; CMD1D; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2; CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3; Familial hypertrophic cardiomyopathy 2; Familial isolated dilated cardiomyopathy; Familial isolated restrictive cardiomyopathy; Familial restrictive cardiomyopathy 3; Left ventricular noncompaction; Left ventricular noncompaction 6 | Uncertain significance | ClinVar | RCV003105386.2, VCV002423449.2 |