nsv5381206
- 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:462,519
- Description:NC_000001.10:g.(?_151122490)_(151585008_?)dup AND Severe myoclonic epilepsy in infancy
- Publication(s):Burgunder et al. 2010, Miller et al. 2007, Steel et al. 2017
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1363 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1372 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381206 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 151,150,014 | 151,612,532 |
| nsv5381206 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 151,122,490 | 151,585,008 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866943 | duplication | Multiple | Multiple | Dravet syndrome; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6; SCN1A-Related Seizure Disorders; Severe myoclonic epilepsy in infancy | Uncertain significance | ClinVar | RCV001324071.4, VCV001023952.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866943 | Remapped | Perfect | NC_000001.11:g.(?_ 151150014)_(151612 532_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 151,150,014 | 151,612,532 |
| nssv16866943 | Submitted genomic | NC_000001.10:g.(?_ 151122490)_(151585 008_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 151,122,490 | 151,585,008 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866943 | GRCh37: NC_000001.10:g.(?_151122490)_(151585008_?)dup | duplication | germline | Dravet syndrome; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6; SCN1A-Related Seizure Disorders; Severe myoclonic epilepsy in infancy | Uncertain significance | ClinVar | RCV001324071.4, VCV001023952.5 |