nsv4682475
- 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:792,962
- Description:NC_000021.8:g.(?_44836602)_(45629566_?)del AND Developmental and epileptic encephalopathy, 30
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3081 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 3129 SVs from 109 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4682475 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 43,416,722 | 44,209,683 |
| nsv4682475 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 44,836,602 | 45,629,566 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16213021 | deletion | Multiple | Multiple | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30; Epileptic encephalopathy, early infantile, 30 | Pathogenic | ClinVar | RCV001031043.2, VCV000830405.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16213021 | Remapped | Perfect | NC_000021.9:g.(?_4 3416722)_(44209683 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,416,722 | 44,209,683 |
| nssv16213021 | Submitted genomic | NC_000021.8:g.(?_4 4836602)_(45629566 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,836,602 | 45,629,566 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16213021 | GRCh37: NC_000021.8:g.(?_44836602)_(45629566_?)del | deletion | germline | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30; Epileptic encephalopathy, early infantile, 30 | Pathogenic | ClinVar | RCV001031043.2, VCV000830405.2 |