nsv3872755
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:210
- Description:NC_000007.13:g.(?_66098242)_(66098451_?)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: 94 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3872755 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 66,633,255 | 66,633,464 |
| nsv3872755 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 66,098,242 | 66,098,451 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15144831 | 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 | Likely pathogenic | ClinVar | RCV000708494.5, VCV000584347.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15144831 | Submitted genomic | NC_000007.14:g.(?_ 66633255)_(6663346 4_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 66,633,255 | 66,633,464 |
| nssv15144831 | Submitted genomic | NC_000007.13:g.(?_ 66098242)_(6609845 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 66,098,242 | 66,098,451 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15144831 | GRCh37: NC_000007.13:g.(?_66098242)_(66098451_?)dup, GRCh38: NC_000007.14:g.(?_66633255)_(66633464_?)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 | Likely pathogenic | ClinVar | RCV000708494.5, VCV000584347.5 |