nsv4350379
- 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:182,142
- Description:GRCh37/hg19 9q34.11(chr9:130335766-130517907) AND Developmental and epileptic encephalopathy, 4
- Publication(s):Khaikin et al. 2016
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 583 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 583 SVs from 58 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4350379 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 127,573,487 | 127,755,628 |
nsv4350379 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 130,335,766 | 130,517,907 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15605846 | copy number loss | Multiple | Multiple | Dravet syndrome; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 4; STXBP1 Encephalopathy with Epilepsy | Pathogenic | ClinVar | RCV000767646.1, VCV000625638.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15605846 | Remapped | Perfect | NC_000009.12:g.(?_ 127573487)_(127755 628_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 127,573,487 | 127,755,628 |
nssv15605846 | Submitted genomic | NC_000009.11:g.(?_ 130335766)_(130517 907_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 130,335,766 | 130,517,907 |
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 |
---|---|---|---|---|---|---|---|
nssv15605846 | GRCh37: NC_000009.11:g.(?_130335766)_(130517907_?)del | copy number loss | germline | Dravet syndrome; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 4; STXBP1 Encephalopathy with Epilepsy | Pathogenic | ClinVar | RCV000767646.1, VCV000625638.1 |