nsv4683836
- 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:22,255
- Description:NC_000009.12:g.(?_135769927)_(135792181_?)dup AND multiple conditions
- Publication(s):Gertler et al. 2018, Kurahashi et al. 2002
- ClinVar: RCV001032889.4
- ClinVar: VCV000832401.6
- 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: 255 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 255 SVs from 42 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683836 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 135,769,927 | 135,792,181 |
| nsv4683836 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 138,661,773 | 138,684,027 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214278 | duplication | 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 | RCV001032889.4, VCV000832401.6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16214278 | Remapped | Perfect | NC_000009.12:g.(?_ 135769927)_(135792 181_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 135,769,927 | 135,792,181 |
| nssv16214278 | Submitted genomic | NC_000009.11:g.(?_ 138661773)_(138684 027_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 138,661,773 | 138,684,027 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16214278 | GRCh37: NC_000009.11:g.(?_138661773)_(138684027_?)dup | duplication | 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 | RCV001032889.4, VCV000832401.6 |