nsv6290361
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2
- Description:
See descriptions for individual calls in download files - Publication(s):Gertler et al. 2018
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 200 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 200 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6290361 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 135,768,850 | 135,768,851 |
| nsv6290361 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 138,660,696 | 138,660,697 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17956494 | duplication | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001822988.1, VCV001338769.2 |
| nssv18830775 | duplication | Multiple | Multiple | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14; Early infantile epileptic encephalopathy 14; KCNT1-Related Epilepsy; Malignant migrating partial seizures of infancy | Likely pathogenic | ClinVar | RCV003314020.1, VCV001338769.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17956494 | Submitted genomic | NC_000009.12:g.135 768850_135768851du p | GRCh38 (hg38) | NC_000009.12 | Chr9 | 135,768,850 | 135,768,851 |
| nssv18830775 | Submitted genomic | NC_000009.12:g.135 768850_135768851du p | GRCh38 (hg38) | NC_000009.12 | Chr9 | 135,768,850 | 135,768,851 |
| nssv17956494 | Submitted genomic | NC_000009.11:g.138 660696_138660697du p | GRCh37 (hg19) | NC_000009.11 | Chr9 | 138,660,696 | 138,660,697 |
| nssv18830775 | Submitted genomic | NC_000009.11:g.138 660696_138660697du p | GRCh37 (hg19) | NC_000009.11 | Chr9 | 138,660,696 | 138,660,697 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17956494 | GRCh37: NC_000009.11:g.138660696_138660697dup, GRCh38: NC_000009.12:g.135768850_135768851dup | duplication | paternal | See cases | Pathogenic | ClinVar | RCV001822988.1, VCV001338769.2 |
| nssv18830775 | GRCh37: NC_000009.11:g.138660696_138660697dup, GRCh38: NC_000009.12:g.135768850_135768851dup | duplication | paternal | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14; Early infantile epileptic encephalopathy 14; KCNT1-Related Epilepsy; Malignant migrating partial seizures of infancy | Likely pathogenic | ClinVar | RCV003314020.1, VCV001338769.2 |