nsv6112696
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:197,757
- Description:NC_000020.11:g.49212886_49410642dup AND Developmental and epileptic encephalopathy, 26
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 639 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 639 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6112696 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 49,212,886 | 49,410,642 | ||
| nsv6112696 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 47,829,423 | 48,027,179 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17649909 | duplication | Multiple | Multiple | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26; Epileptic encephalopathy, early infantile, 26; Undetermined early onset epileptic encephalopathy | Uncertain significance | ClinVar | RCV001542404.1, VCV001184395.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17649909 | Submitted genomic | NC_000020.11:g.492 12886_49410642dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 49,212,886 | 49,410,642 | ||
| nssv17649909 | Remapped | Perfect | NC_000020.10:g.478 29423_48027179dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 47,829,423 | 48,027,179 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17649909 | GRCh38: NC_000020.11:g.49212886_49410642dup | duplication | inherited | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26; Epileptic encephalopathy, early infantile, 26; Undetermined early onset epileptic encephalopathy | Uncertain significance | ClinVar | RCV001542404.1, VCV001184395.1 |