nsv4451638
- 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:112,361
- Description:NC_000023.11:g.(?_100296257)_(100408617_?)del AND Developmental and epileptic encephalopathy, 9
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 248 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 248 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4451638 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 100,296,257 | 100,408,617 |
| nsv4451638 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 99,551,255 | 99,663,615 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15770547 | deletion | Multiple | Multiple | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9; Early infantile epileptic encephalopathy 9; X linked intellectual disability epilepsy syndrome | Pathogenic | ClinVar | RCV000809991.1, VCV000654099.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15770547 | Submitted genomic | NC_000023.11:g.(?_ 100296257)_(100408 617_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 100,296,257 | 100,408,617 |
| nssv15770547 | Submitted genomic | NC_000023.10:g.(?_ 99551255)_(9966361 5_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 99,551,255 | 99,663,615 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15770547 | GRCh37: NC_000023.10:g.(?_99551255)_(99663615_?)del, GRCh38: NC_000023.11:g.(?_100296257)_(100408617_?)del | deletion | germline | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9; Early infantile epileptic encephalopathy 9; X linked intellectual disability epilepsy syndrome | Pathogenic | ClinVar | RCV000809991.1, VCV000654099.1 |