nsv6312682
- 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:41,413
- Description:NC_000009.11:g.(?_130374683)_(130416095_?)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: 214 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 214 SVs from 39 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6312682 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 127,612,404 | 127,653,816 |
| nsv6312682 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 130,374,683 | 130,416,095 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17973104 | deletion | Multiple | Multiple | Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile | Pathogenic | ClinVar | RCV002000158.3, VCV001453163.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17973104 | Remapped | Perfect | NC_000009.12:g.(?_ 127612404)_(127653 816_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 127,612,404 | 127,653,816 |
| nssv17973104 | Submitted genomic | NC_000009.11:g.(?_ 130374683)_(130416 095_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 130,374,683 | 130,416,095 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17973104 | GRCh37: NC_000009.11:g.(?_130374683)_(130416095_?)del | deletion | germline | Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile | Pathogenic | ClinVar | RCV002000158.3, VCV001453163.3 |