nsv3877026
- 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:24,722
- Description:NC_000002.12:g.(?_165365123)_(165389844_?)del AND multiple conditions
- Publication(s):Burgunder et al. 2010
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 151 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3877026 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 165,365,123 | 165,389,844 |
| nsv3877026 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 166,221,633 | 166,246,354 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15144358 | deletion | Multiple | Multiple | Benign familial infantile epilepsy; Benign familial neonatal-infantile seizures; Benign familial neonatal-infantile seizures; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 11; SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3 | Pathogenic | ClinVar | RCV000708090.3, VCV000583829.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15144358 | Submitted genomic | NC_000002.12:g.(?_ 165365123)_(165389 844_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 165,365,123 | 165,389,844 |
| nssv15144358 | Submitted genomic | NC_000002.11:g.(?_ 166221633)_(166246 354_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 166,221,633 | 166,246,354 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15144358 | GRCh37: NC_000002.11:g.(?_166221633)_(166246354_?)del, GRCh38: NC_000002.12:g.(?_165365123)_(165389844_?)del | deletion | germline | Benign familial infantile epilepsy; Benign familial neonatal-infantile seizures; Benign familial neonatal-infantile seizures; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 11; SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3 | Pathogenic | ClinVar | RCV000708090.3, VCV000583829.3 |