nsv7093787
- 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:21,409
- Description:NC_000010.10:g.(?_18807245)_(18828653_?)dup AND Brugada syndrome 4
- Publication(s):Brugada et al. 2005
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 114 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7093787 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 18,518,316 | 18,539,724 |
| nsv7093787 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 18,807,245 | 18,828,653 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18790353 | duplication | Multiple | Multiple | BRUGADA SYNDROME 4; BRGDA4; Brugada Syndrome; Brugada syndrome; Brugada syndrome 4 | Uncertain significance | ClinVar | RCV003114019.2, VCV002427689.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18790353 | Remapped | Perfect | NC_000010.11:g.(?_ 18518316)_(1853972 4_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 18,518,316 | 18,539,724 |
| nssv18790353 | Submitted genomic | NC_000010.10:g.(?_ 18807245)_(1882865 3_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 18,807,245 | 18,828,653 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18790353 | GRCh37: NC_000010.10:g.(?_18807245)_(18828653_?)dup | duplication | germline | BRUGADA SYNDROME 4; BRGDA4; Brugada Syndrome; Brugada syndrome; Brugada syndrome 4 | Uncertain significance | ClinVar | RCV003114019.2, VCV002427689.2 |