nsv7098130
- 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:9,387
- Description:NC_000007.13:g.(?_66094052)_(66103438_?)dup AND Progressive myoclonic epilepsy type 3
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 146 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 146 SVs from 47 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098130 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 66,629,065 | 66,638,451 |
| nsv7098130 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 66,094,052 | 66,103,438 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18790100 | duplication | Multiple | Multiple | EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3; Epilepsy, progressive myoclonic 3; Progressive myoclonic epilepsy type 3; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV003113756.2, VCV002427427.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18790100 | Remapped | Perfect | NC_000007.14:g.(?_ 66629065)_(6663845 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 66,629,065 | 66,638,451 |
| nssv18790100 | Submitted genomic | NC_000007.13:g.(?_ 66094052)_(6610343 8_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 66,094,052 | 66,103,438 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18790100 | GRCh37: NC_000007.13:g.(?_66094052)_(66103438_?)dup | duplication | germline | EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3; Epilepsy, progressive myoclonic 3; Progressive myoclonic epilepsy type 3; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV003113756.2, VCV002427427.2 |