nsv7099022
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,653
- Description:NM_016373.4(WWOX):c.606-1778_792-2744del AND Developmental and epileptic encephalopathy, 28
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 175 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 175 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7099022 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 78,423,091 | 78,429,743 |
| nsv7099022 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 78,456,988 | 78,463,640 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792882 | deletion | Multiple | Multiple | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28; Epileptic encephalopathy, early infantile, 28; Undetermined early onset epileptic encephalopathy | Pathogenic | ClinVar | RCV003225625.1, VCV002500713.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18792882 | Submitted genomic | NC_000016.10:g.784 23091_78429743del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 78,423,091 | 78,429,743 |
| nssv18792882 | Submitted genomic | NC_000016.9:g.7845 6988_78463640del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 78,456,988 | 78,463,640 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792882 | GRCh37: NC_000016.9:g.78456988_78463640del, GRCh38: NC_000016.10:g.78423091_78429743del | deletion | paternal | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28; Epileptic encephalopathy, early infantile, 28; Undetermined early onset epileptic encephalopathy | Pathogenic | ClinVar | RCV003225625.1, VCV002500713.1 |