nsv7095910
- 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:606,336
- Description:NC_000020.10:g.(?_61471874)_(62078210_?)del AND Early infantile epileptic encephalopathy with suppression bursts
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3278 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 3279 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095910 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 62,840,522 | 63,446,857 |
| nsv7095910 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 61,471,874 | 62,078,210 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18790160 | deletion | Multiple | Multiple | Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile | Pathogenic | ClinVar | RCV003113817.1, VCV002427488.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18790160 | Remapped | Perfect | NC_000020.11:g.(?_ 62840522)_(6344685 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,840,522 | 63,446,857 |
| nssv18790160 | Submitted genomic | NC_000020.10:g.(?_ 61471874)_(6207821 0_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 61,471,874 | 62,078,210 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18790160 | GRCh37: NC_000020.10:g.(?_61471874)_(62078210_?)del | deletion | germline | Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile | Pathogenic | ClinVar | RCV003113817.1, VCV002427488.2 |