nsv4681137
- 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:807,277
- Description:NC_000005.9:g.(?_160721068)_(161528343_?)del AND multiple conditions
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1682 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 1682 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4681137 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 161,294,061 | 162,101,337 |
| nsv4681137 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 160,721,068 | 161,528,343 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214823 | deletion | Multiple | Multiple | Childhood absence epilepsy; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EIG13; EPILEPSY, IDIOPATHIC GENERALIZED; EIG; Epilepsy, childhood absence 4; Epilepsy, idiopathic generalized; Epilepsy, juvenile myoclonic 5; Idiopathic generalized epilepsy; Juvenile myoclonic epilepsy; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001033510.2, VCV000833049.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16214823 | Remapped | Perfect | NC_000005.10:g.(?_ 161294061)_(162101 337_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 161,294,061 | 162,101,337 |
| nssv16214823 | Submitted genomic | NC_000005.9:g.(?_1 60721068)_(1615283 43_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 160,721,068 | 161,528,343 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16214823 | GRCh37: NC_000005.9:g.(?_160721068)_(161528343_?)del | deletion | germline | Childhood absence epilepsy; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EIG13; EPILEPSY, IDIOPATHIC GENERALIZED; EIG; Epilepsy, childhood absence 4; Epilepsy, idiopathic generalized; Epilepsy, juvenile myoclonic 5; Idiopathic generalized epilepsy; Juvenile myoclonic epilepsy; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001033510.2, VCV000833049.2 |