nsv6311991
- 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:27,316
- Description:NC_000003.11:g.(?_50513539)_(50540854_?)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: 144 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 48 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6311991 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 50,476,108 | 50,503,423 |
| nsv6311991 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 50,513,539 | 50,540,854 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17972272 | deletion | Multiple | Multiple | Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile | Pathogenic | ClinVar | RCV001972525.4, VCV001457005.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17972272 | Remapped | Perfect | NC_000003.12:g.(?_ 50476108)_(5050342 3_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 50,476,108 | 50,503,423 |
| nssv17972272 | Submitted genomic | NC_000003.11:g.(?_ 50513539)_(5054085 4_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 50,513,539 | 50,540,854 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17972272 | GRCh37: NC_000003.11:g.(?_50513539)_(50540854_?)del | deletion | germline | Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile | Pathogenic | ClinVar | RCV001972525.4, VCV001457005.4 |