nsv4450120
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:12,502
- Description:NC_000009.11:g.(?_138594085)_(138606586_?)dup AND multiple conditions
- Publication(s):Gertler et al. 2018, Kurahashi et al. 2002
- ClinVar: RCV000819900.2
- ClinVar: VCV000662288.2
- 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: 258 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 258 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4450120 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 135,702,239 | 135,714,740 |
| nsv4450120 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 138,594,085 | 138,606,586 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15770864 | 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 | RCV000819900.2, VCV000662288.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15770864 | Submitted genomic | NC_000009.12:g.(?_ 135702239)_(135714 740_?)dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 135,702,239 | 135,714,740 |
| nssv15770864 | Submitted genomic | NC_000009.11:g.(?_ 138594085)_(138606 586_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 138,594,085 | 138,606,586 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15770864 | GRCh37: NC_000009.11:g.(?_138594085)_(138606586_?)dup, GRCh38: NC_000009.12:g.(?_135702239)_(135714740_?)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 | RCV000819900.2, VCV000662288.2 |