nsv5380885
- 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:3,793,298
- Description:NC_000011.9:g.(?_298501)_(4113028_?)dup AND Early infantile epileptic encephalopathy with suppression bursts
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 17487 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 17109 SVs from 123 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5380885 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 298,501 | 4,091,798 |
| nsv5380885 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 298,501 | 4,113,028 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866686 | duplication | Multiple | Multiple | Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile | Uncertain significance | ClinVar | RCV001316682.2, VCV001017523.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866686 | Remapped | Good | NC_000011.10:g.(?_ 298501)_(4091798_? )dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 298,501 | 4,091,798 |
| nssv16866686 | Submitted genomic | NC_000011.9:g.(?_2 98501)_(4113028_?) dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 298,501 | 4,113,028 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866686 | GRCh37: NC_000011.9:g.(?_298501)_(4113028_?)dup | duplication | germline | Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile | Uncertain significance | ClinVar | RCV001316682.2, VCV001017523.2 |