nsv5564215
- 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:359
- Description:NC_000014.8:g.(?_90870713)_(90871071_?)dup AND multiple conditions
- Publication(s):Alders et al. 2003, Napolitano et al. 2004
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 48 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 48 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5564215 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 90,404,369 | 90,404,727 |
| nsv5564215 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 90,870,713 | 90,871,071 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17059235 | duplication | Multiple | Multiple | Catecholaminergic Polymorphic Ventricular Tachycardia; Catecholaminergic polymorphic ventricular tachycardia; Familial long QT syndrome; LONG QT SYNDROME 14; LQT14; Long QT Syndrome; Long QT syndrome 14; Romano-Ward syndrome; VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4; CPVT4; Ventricular tachycardia, catecholaminergic polymorphic, 4 | Uncertain significance | ClinVar | RCV001372387.3, VCV001062650.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17059235 | Remapped | Perfect | NC_000014.9:g.(?_9 0404369)_(90404727 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 90,404,369 | 90,404,727 |
| nssv17059235 | Submitted genomic | NC_000014.8:g.(?_9 0870713)_(90871071 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 90,870,713 | 90,871,071 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17059235 | GRCh37: NC_000014.8:g.(?_90870713)_(90871071_?)dup | duplication | germline | Catecholaminergic Polymorphic Ventricular Tachycardia; Catecholaminergic polymorphic ventricular tachycardia; Familial long QT syndrome; LONG QT SYNDROME 14; LQT14; Long QT Syndrome; Long QT syndrome 14; Romano-Ward syndrome; VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4; CPVT4; Ventricular tachycardia, catecholaminergic polymorphic, 4 | Uncertain significance | ClinVar | RCV001372387.3, VCV001062650.3 |