nsv6289947
- 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:52,277
- Description:NC_000009.11:g.77261322_77313598del AND Epilepsy, idiopathic generalized, susceptibility to, 15
- Publication(s):Rudolf 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: 166 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 41 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6289947 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 74,646,406 | 74,698,682 |
nsv6289947 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 77,261,322 | 77,313,598 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17955481 | deletion | Multiple | Multiple | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15; EIG15; Epilepsy, idiopathic generalized, susceptibility to, 15 | risk factor | ClinVar | RCV000761194.1, VCV000620654.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17955481 | Remapped | Perfect | NC_000009.12:g.746 46406_74698682del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 74,646,406 | 74,698,682 |
nssv17955481 | Submitted genomic | NC_000009.11:g.772 61322_77313598del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 77,261,322 | 77,313,598 |
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 |
---|---|---|---|---|---|---|---|
nssv17955481 | GRCh37: NC_000009.11:g.77261322_77313598del | deletion | germline | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15; EIG15; Epilepsy, idiopathic generalized, susceptibility to, 15 | risk factor | ClinVar | RCV000761194.1, VCV000620654.1 |