nsv4683252
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,465,624
- Description:
See descriptions for individual calls in download files - Publication(s):Gertler et al. 2018, Kurahashi et al. 2002, Platzer et al. 2019
- ClinVar: RCV001033771.1
- ClinVar: RCV001305481.1
- ClinVar: VCV001008189.1
- GeneReviews: NBK1169
- GeneReviews: NBK525917
- GeneReviews: NBK542807
- MONDO: 0013655
- MONDO: 0013989
- MONDO: 0014002
- MedGen: C3280282
- MedGen: C3554195
- MedGen: C3554306
- OMIM: 603395.0003
- OMIM: 603395.0004
- OMIM: 603395.0005
- OMIM: 614254
- OMIM: 614959
- OMIM: 615005
- Orphanet: 293181
- Orphanet: 98784
- PubMed: 20301348
- PubMed: 30234941
- PubMed: 31219694
- 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: 7020 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 6936 SVs from 110 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683252 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 135,702,239 | 137,167,862 |
| nsv4683252 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 138,594,085 | 140,062,314 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866312 | 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 | RCV001305481.1, VCV001008189.1 |
| nssv17173235 | duplication | Multiple | Multiple | GRIN1-Related Neurodevelopmental Disorder; NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | Uncertain significance | ClinVar | RCV001033771.1, VCV001008189.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866312 | Remapped | Good | NC_000009.12:g.(?_ 135702239)_(137167 862_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 135,702,239 | 137,167,862 |
| nssv17173235 | Remapped | Good | NC_000009.12:g.(?_ 135702239)_(137167 862_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 135,702,239 | 137,167,862 |
| nssv16866312 | Submitted genomic | NC_000009.11:g.(?_ 138594085)_(140062 314_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 138,594,085 | 140,062,314 | ||
| nssv17173235 | Submitted genomic | NC_000009.11:g.(?_ 138594085)_(140062 314_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 138,594,085 | 140,062,314 |