nsv6315415
- 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:67,716,692
- Description:GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) AND Bradycardia
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 137152 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 132550 SVs from 143 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315415 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 203,861 | 67,920,552 |
| nsv6315415 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 203,861 | 68,342,786 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976995 | copy number gain | Multiple | Multiple | Bradycardia; Bradycardia | Pathogenic | ClinVar | RCV002280662.1, VCV001703576.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976995 | Remapped | Good | NC_000009.12:g.(?_ 203861)_(67920552_ ?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 203,861 | 67,920,552 |
| nssv17976995 | Submitted genomic | NC_000009.11:g.(?_ 203861)_(68342786_ ?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 203,861 | 68,342,786 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976995 | GRCh37: NC_000009.11:g.(?_203861)_(68342786_?)dup | copy number gain | unknown | Bradycardia; Bradycardia | Pathogenic | ClinVar | RCV002280662.1, VCV001703576.1 |