nsv7097702
- 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:7,324
- Description:NC_000009.11:g.(?_138641924)_(138649247_?)del AND multiple conditions
- Publication(s):Gertler et al. 2018, Kurahashi et al. 2002
- ClinVar: RCV003109774.2
- ClinVar: VCV002426623.4
- GeneReviews: NBK1169
- GeneReviews: NBK525917
- MONDO: 0013989
- MONDO: 0014002
- MedGen: C3554195
- MedGen: C3554306
- OMIM: 603395.0003
- OMIM: 603395.0004
- OMIM: 603395.0005
- OMIM: 614959
- OMIM: 615005
- Orphanet: 293181
- Orphanet: 98784
- PubMed: 20301348
- PubMed: 30234941
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 228 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 228 SVs from 37 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097702 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 135,750,078 | 135,757,401 |
| nsv7097702 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 138,641,924 | 138,649,247 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18788814 | deletion | Multiple | Multiple | Autosomal Dominant Nocturnal Frontal Lobe Epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy; EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14; Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5; KCNT1-Related Epilepsy; Malignant migrating partial seizures of infancy; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV003109774.2, VCV002426623.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18788814 | Remapped | Perfect | NC_000009.12:g.(?_ 135750078)_(135757 401_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 135,750,078 | 135,757,401 |
| nssv18788814 | Submitted genomic | NC_000009.11:g.(?_ 138641924)_(138649 247_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 138,641,924 | 138,649,247 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18788814 | GRCh37: NC_000009.11:g.(?_138641924)_(138649247_?)del | deletion | germline | Autosomal Dominant Nocturnal Frontal Lobe Epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy; EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14; Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5; KCNT1-Related Epilepsy; Malignant migrating partial seizures of infancy; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV003109774.2, VCV002426623.4 |