nsv4683944
- 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:1,368,066
- Description:NC_000009.12:g.(?_97428446)_(98796511_?)dup AND Epileptic encephalopathy
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3265 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 3265 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683944 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 97,428,446 | 98,796,511 |
| nsv4683944 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 100,190,728 | 101,558,793 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16212405 | duplication | Multiple | Multiple | Epileptic encephalopathy; Epileptic encephalopathy | Uncertain significance | ClinVar | RCV001033232.4, VCV000832760.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16212405 | Remapped | Perfect | NC_000009.12:g.(?_ 97428446)_(9879651 1_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 97,428,446 | 98,796,511 |
| nssv16212405 | Submitted genomic | NC_000009.11:g.(?_ 100190728)_(101558 793_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 100,190,728 | 101,558,793 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16212405 | GRCh37: NC_000009.11:g.(?_100190728)_(101558793_?)dup | duplication | germline | Epileptic encephalopathy; Epileptic encephalopathy | Uncertain significance | ClinVar | RCV001033232.4, VCV000832760.4 |