nsv5672918
- 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:20,087
- Description:NC_000016.9:g.(?_160513)_(180600_?)del AND Epilepsy, familial focal, with variable foci 3
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 266 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 267 SVs from 46 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672918 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 110,515 | 130,601 |
| nsv5672918 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 160,513 | 180,600 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17171848 | deletion | Multiple | Multiple | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3; FFEVF3; Epilepsy, familial focal, with variable foci 3 | Pathogenic | ClinVar | RCV001389925.1, VCV001076140.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17171848 | Remapped | Good | NC_000016.10:g.(?_ 110515)_(130601_?) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 110,515 | 130,601 |
| nssv17171848 | Submitted genomic | NC_000016.9:g.(?_1 60513)_(180600_?)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 160,513 | 180,600 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17171848 | GRCh37: NC_000016.9:g.(?_160513)_(180600_?)del | deletion | germline | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3; FFEVF3; Epilepsy, familial focal, with variable foci 3 | Pathogenic | ClinVar | RCV001389925.1, VCV001076140.1 |