nsv4674805
- 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:11,825,780
- Description:Single allele AND Focal-onset seizure
- Publication(s):Turro et al. 2020
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 31665 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 31699 SVs from 129 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674805 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 36,352,027 | 48,177,806 |
| nsv4674805 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 34,980,430 | 46,806,549 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16207665 | deletion | Multiple | Multiple | Focal seizures; Focal-onset seizure | Likely pathogenic | ClinVar | RCV001004039.1, VCV000813269.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207665 | Remapped | Good | NC_000020.11:g.363 52027_48177806del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 36,352,027 | 48,177,806 |
| nssv16207665 | Submitted genomic | NC_000020.10:g.349 80430_46806549del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 34,980,430 | 46,806,549 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16207665 | GRCh37: NC_000020.10:g.34980430_46806549del | deletion | unknown | Focal seizures; Focal-onset seizure | Likely pathogenic | ClinVar | RCV001004039.1, VCV000813269.1 |