nsv5381223
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,776,809
- Description:
See descriptions for individual calls in download files
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9918 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 9882 SVs from 116 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381223 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 62,256,185 | 64,032,993 |
| nsv5381223 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 60,831,241 | 62,664,346 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16865955 | duplication | Multiple | Multiple | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33; EIEE33; Epileptic encephalopathy, early infantile, 33; Undetermined early onset epileptic encephalopathy | Uncertain significance | ClinVar | RCV001295457.7, VCV000999459.6 |
| nssv16866702 | duplication | Multiple | Multiple | Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile | Uncertain significance | ClinVar | RCV001316934.7, VCV000999459.6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16865955 | Remapped | Good | NC_000020.11:g.(?_ 62256185)_(6403299 3_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,256,185 | 64,032,993 |
| nssv16866702 | Remapped | Good | NC_000020.11:g.(?_ 62256185)_(6403299 3_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,256,185 | 64,032,993 |
| nssv16865955 | Submitted genomic | NC_000020.10:g.(?_ 60831241)_(6266434 6_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 60,831,241 | 62,664,346 | ||
| nssv16866702 | Submitted genomic | NC_000020.10:g.(?_ 60831241)_(6266434 6_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 60,831,241 | 62,664,346 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16865955 | GRCh37: NC_000020.10:g.(?_60831241)_(62664346_?)dup | duplication | germline | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33; EIEE33; Epileptic encephalopathy, early infantile, 33; Undetermined early onset epileptic encephalopathy | Uncertain significance | ClinVar | RCV001295457.7, VCV000999459.6 |
| nssv16866702 | GRCh37: NC_000020.10:g.(?_60831241)_(62664346_?)dup | duplication | germline | Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile | Uncertain significance | ClinVar | RCV001316934.7, VCV000999459.6 |