nsv5673181
- 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:248,645
- Description:NC_000020.10:g.(?_62076002)_(62324646_?)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: 1801 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1801 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673181 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 63,444,649 | 63,693,293 |
| nsv5673181 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 62,076,002 | 62,324,646 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17173017 | deletion | Multiple | Multiple | Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile | Pathogenic | ClinVar | RCV001386825.2, VCV001073749.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17173017 | Remapped | Perfect | NC_000020.11:g.(?_ 63444649)_(6369329 3_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 63,444,649 | 63,693,293 |
| nssv17173017 | Submitted genomic | NC_000020.10:g.(?_ 62076002)_(6232464 6_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 62,076,002 | 62,324,646 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17173017 | GRCh37: NC_000020.10:g.(?_62076002)_(62324646_?)del | deletion | germline | Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile | Pathogenic | ClinVar | RCV001386825.2, VCV001073749.2 |