nsv4681098
- 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:1,890,426
- Description:NC_000002.11:g.15744252_17675820del AND multiple conditions
- Publication(s):Turro et al. 2020
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4217 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 4188 SVs from 99 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4681098 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 15,604,128 | 17,494,553 |
| nsv4681098 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 15,744,252 | 17,675,820 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214781 | deletion | Multiple | Multiple | Epileptic encephalopathy; Epileptic encephalopathy; Hypsarrhythmia; Hypsarrhythmia; Optic atrophy; Optic atrophy; Optic atrophy; Peripheral edema; Peripheral edema; Progressive encephalopathy; Progressive encephalopathy | Likely pathogenic | ClinVar | RCV001003856.1, VCV000812922.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16214781 | Remapped | Good | NC_000002.12:g.156 04128_17494553del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 15,604,128 | 17,494,553 |
| nssv16214781 | Submitted genomic | NC_000002.11:g.157 44252_17675820del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 15,744,252 | 17,675,820 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16214781 | GRCh37: NC_000002.11:g.15744252_17675820del | deletion | unknown | Epileptic encephalopathy; Epileptic encephalopathy; Hypsarrhythmia; Hypsarrhythmia; Optic atrophy; Optic atrophy; Optic atrophy; Peripheral edema; Peripheral edema; Progressive encephalopathy; Progressive encephalopathy | Likely pathogenic | ClinVar | RCV001003856.1, VCV000812922.1 |