nsv6315513
- 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:26,968,488
- Description:GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) AND Seizure
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 80668 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 80863 SVs from 139 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315513 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 20,043,513 | 47,012,000 |
| nsv6315513 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 20,511,672 | 47,481,203 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976958 | copy number gain | Multiple | Multiple | Seizure; Seizures | Pathogenic | ClinVar | RCV002280625.1, VCV001703540.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976958 | Remapped | Good | NC_000014.9:g.(?_2 0043513)_(47012000 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,043,513 | 47,012,000 |
| nssv17976958 | Submitted genomic | NC_000014.8:g.(?_2 0511672)_(47481203 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,511,672 | 47,481,203 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976958 | GRCh37: NC_000014.8:g.(?_20511672)_(47481203_?)dup | copy number gain | unknown | Seizure; Seizures | Pathogenic | ClinVar | RCV002280625.1, VCV001703540.1 |