nsv5059948
- 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:2
- Description:NM_000238.4(KCNH2):c.1129-831_3109dup AND Long QT syndrome
- Publication(s):Alders et al. 2003, Miller et al. 2022, Priori et al. 2013
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 157 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 157 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5059948 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 150,947,370 | 150,947,371 |
| nsv5059948 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 150,644,458 | 150,644,459 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15144113 | duplication | Multiple | Multiple | Long QT Syndrome; Long QT Syndrome; Long QT syndrome; Long QT syndrome; Prolonged QT interval | Likely pathogenic | ClinVar | RCV000691645.1, VCV000570715.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15144113 | Submitted genomic | NC_000007.14:g.150 947370_150947371du p | GRCh38 (hg38) | NC_000007.14 | Chr7 | 150,947,370 | 150,947,371 |
| nssv15144113 | Submitted genomic | NC_000007.13:g.150 644458_150644459du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 150,644,458 | 150,644,459 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15144113 | GRCh37: NC_000007.13:g.150644458_150644459dup, GRCh38: NC_000007.14:g.150947370_150947371dup | duplication | germline | Long QT Syndrome; Long QT Syndrome; Long QT syndrome; Long QT syndrome; Prolonged QT interval | Likely pathogenic | ClinVar | RCV000691645.1, VCV000570715.1 |