nsv5381809
- 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:804,929
- Description:GRCh37/hg19 20q13.33(chr20:61510452-62315381) AND Epileptic spasm
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4687 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 4688 SVs from 105 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381809 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 62,879,100 | 63,684,028 |
| nsv5381809 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 61,510,452 | 62,315,381 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867401 | copy number loss | Multiple | Multiple | Epileptic spasm; Epileptic spasms | Pathogenic | ClinVar | RCV001352668.1, VCV001047899.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867401 | Remapped | Perfect | NC_000020.11:g.(?_ 62879100)_(6368402 8_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,879,100 | 63,684,028 |
| nssv16867401 | Submitted genomic | NC_000020.10:g.(?_ 61510452)_(6231538 1_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 61,510,452 | 62,315,381 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867401 | GRCh37: NC_000020.10:g.(?_61510452)_(62315381_?)del | copy number loss | paternal | Epileptic spasm; Epileptic spasms | Pathogenic | ClinVar | RCV001352668.1, VCV001047899.1 |