nsv4769253
- 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:85,218
- Description:NC_000023.11:g.18419574_18504791del AND Developmental and epileptic encephalopathy, 2
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 216 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 32 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4769253 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 18,419,574 | 18,504,791 | ||
nsv4769253 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 18,437,694 | 18,522,911 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16297036 | deletion | Multiple | Multiple | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 2; Infantile spasms syndrome | Pathogenic | ClinVar | RCV001270626.2, VCV000988898.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16297036 | Submitted genomic | NC_000023.11:g.184 19574_18504791del | GRCh38 (hg38) | NC_000023.11 | ChrX | 18,419,574 | 18,504,791 | ||
nssv16297036 | Remapped | Perfect | NC_000023.10:g.184 37694_18522911del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 18,437,694 | 18,522,911 |
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 |
---|---|---|---|---|---|---|---|
nssv16297036 | GRCh38: NC_000023.11:g.18419574_18504791del | deletion | de novo | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 2; Infantile spasms syndrome | Pathogenic | ClinVar | RCV001270626.2, VCV000988898.2 |