nsv4683478
- 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:2,413,659
- Description:NC_000001.10:g.(?_955543)_(3350385_?)del AND Left ventricular noncompaction 8
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 13934 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 13926 SVs from 121 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683478 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 1,020,163 | 3,433,821 |
| nsv4683478 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 955,543 | 3,350,385 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16212618 | deletion | Multiple | Multiple | Familial isolated dilated cardiomyopathy; LEFT VENTRICULAR NONCOMPACTION 8; LVNC8; Left ventricular noncompaction; Left ventricular noncompaction 8 | Uncertain significance | ClinVar | RCV001033604.1, VCV000833146.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16212618 | Remapped | Good | NC_000001.11:g.(?_ 1020163)_(3433821_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,020,163 | 3,433,821 |
| nssv16212618 | Submitted genomic | NC_000001.10:g.(?_ 955543)_(3350385_? )del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 955,543 | 3,350,385 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16212618 | GRCh37: NC_000001.10:g.(?_955543)_(3350385_?)del | deletion | germline | Familial isolated dilated cardiomyopathy; LEFT VENTRICULAR NONCOMPACTION 8; LVNC8; Left ventricular noncompaction; Left ventricular noncompaction 8 | Uncertain significance | ClinVar | RCV001033604.1, VCV000833146.1 |