nsv6311840
- 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:1,223,095
- Description:NC_000004.11:g.(?_76481293)_(77700330_?)del AND Progressive myoclonic epilepsy
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3796 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 3792 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6311840 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 75,556,083 | 76,779,177 |
| nsv6311840 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 76,481,293 | 77,700,330 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17971083 | deletion | Multiple | Multiple | Epilepsy, progressive myoclonic; Progressive myoclonic epilepsy; Unverricht-Lundborg disease | Pathogenic | ClinVar | RCV001950969.3, VCV001456083.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17971083 | Remapped | Good | NC_000004.12:g.(?_ 75556083)_(7677917 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 75,556,083 | 76,779,177 |
| nssv17971083 | Submitted genomic | NC_000004.11:g.(?_ 76481293)_(7770033 0_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 76,481,293 | 77,700,330 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17971083 | GRCh37: NC_000004.11:g.(?_76481293)_(77700330_?)del | deletion | germline | Epilepsy, progressive myoclonic; Progressive myoclonic epilepsy; Unverricht-Lundborg disease | Pathogenic | ClinVar | RCV001950969.3, VCV001456083.3 |