nsv4451218
- 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:1,162,795
- Description:NC_000011.9:g.(?_118007722)_(119170511_?)del AND Long QT syndrome 10
- Publication(s):Alders et al. 2003
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3717 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 3724 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4451218 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 118,137,007 | 119,299,801 |
| nsv4451218 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 118,007,722 | 119,170,511 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15774073 | deletion | Multiple | Multiple | Familial long QT syndrome; LONG QT SYNDROME 10; LQT10; Long QT Syndrome; Long QT syndrome 10; Romano-Ward syndrome | Uncertain significance | ClinVar | RCV000816632.5, VCV000659604.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774073 | Remapped | Perfect | NC_000011.10:g.(?_ 118137007)_(119299 801_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 118,137,007 | 119,299,801 |
| nssv15774073 | Submitted genomic | NC_000011.9:g.(?_1 18007722)_(1191705 11_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 118,007,722 | 119,170,511 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15774073 | GRCh37: NC_000011.9:g.(?_118007722)_(119170511_?)del | deletion | germline | Familial long QT syndrome; LONG QT SYNDROME 10; LQT10; Long QT Syndrome; Long QT syndrome 10; Romano-Ward syndrome | Uncertain significance | ClinVar | RCV000816632.5, VCV000659604.5 |