nsv4681206
- 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:2,081,057
- Description:
See descriptions for individual calls in download files - Publication(s):Gertler et al. 2018, Kleefstra et al. 2010, Kurahashi et al. 2002
- ClinVar: RCV001031921.6
- ClinVar: RCV001362982.9
- ClinVar: VCV000831360.33
- GeneReviews: NBK1169
- GeneReviews: NBK47079
- GeneReviews: NBK525917
- MONDO: 0013989
- MONDO: 0014002
- MONDO: 0027407
- MedGen: C0795833
- MedGen: C3554195
- MedGen: C3554306
- OMIM: 603395.0003
- OMIM: 603395.0004
- OMIM: 603395.0005
- OMIM: 610253
- OMIM: 614959
- OMIM: 615005
- Orphanet: 261494
- Orphanet: 293181
- Orphanet: 98784
- PubMed: 20301348
- PubMed: 20945554
- 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: 10295 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 10211 SVs from 115 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4681206 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 135,753,917 | 137,834,973 |
nsv4681206 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 138,645,763 | 140,729,425 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16214709 | deletion | Multiple | Multiple | KLEEFSTRA SYNDROME 1; KLEFS1; Kleefstra Syndrome; Kleefstra syndrome; Kleefstra syndrome 1 | Pathogenic | ClinVar | RCV001031921.6, VCV000831360.33 |
nssv17059560 | 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 | RCV001362982.9, VCV000831360.33 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16214709 | Remapped | Good | NC_000009.12:g.(?_ 135753917)_(137834 973_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 135,753,917 | 137,834,973 |
nssv17059560 | Remapped | Good | NC_000009.12:g.(?_ 135753917)_(137834 973_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 135,753,917 | 137,834,973 |
nssv16214709 | Submitted genomic | NC_000009.11:g.(?_ 138645763)_(140729 425_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 138,645,763 | 140,729,425 | ||
nssv17059560 | Submitted genomic | NC_000009.11:g.(?_ 138645763)_(140729 425_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 138,645,763 | 140,729,425 |
No validation data were submitted for this variant
Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.
Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16214709 | GRCh37: NC_000009.11:g.(?_138645763)_(140729425_?)del | deletion | germline | KLEEFSTRA SYNDROME 1; KLEFS1; Kleefstra Syndrome; Kleefstra syndrome; Kleefstra syndrome 1 | Pathogenic | ClinVar | RCV001031921.6, VCV000831360.33 |
nssv17059560 | GRCh37: NC_000009.11:g.(?_138645763)_(140729425_?)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 | RCV001362982.9, VCV000831360.33 |