nsv5673945
- 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:1,155,050
- 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: 2560 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 2561 SVs from 84 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5673945 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 132,129,262 | 133,284,311 |
nsv5673945 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 133,141,509 | 134,296,554 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17172724 | deletion | Multiple | Multiple | Benign familial neonatal epilepsy; Benign familial neonatal seizures; Seizures, benign familial neonatal | Pathogenic | ClinVar | RCV001383836.4, VCV001071384.4 |
nssv17975114 | duplication | Multiple | Multiple | Benign familial neonatal epilepsy; Benign familial neonatal seizures; Seizures, benign familial neonatal | Uncertain significance | ClinVar | RCV001938899.3, VCV001429361.3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17172724 | Remapped | Perfect | NC_000008.11:g.(?_ 132129262)_(133284 311_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 132,129,262 | 133,284,311 |
nssv17975114 | Remapped | Perfect | NC_000008.11:g.(?_ 132129262)_(133284 311_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 132,129,262 | 133,284,311 |
nssv17172724 | Submitted genomic | NC_000008.10:g.(?_ 133141509)_(134296 554_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 133,141,509 | 134,296,554 | ||
nssv17975114 | Submitted genomic | NC_000008.10:g.(?_ 133141509)_(134296 554_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 133,141,509 | 134,296,554 |
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 |
---|---|---|---|---|---|---|---|
nssv17172724 | GRCh37: NC_000008.10:g.(?_133141509)_(134296554_?)del | deletion | germline | Benign familial neonatal epilepsy; Benign familial neonatal seizures; Seizures, benign familial neonatal | Pathogenic | ClinVar | RCV001383836.4, VCV001071384.4 |
nssv17975114 | GRCh37: NC_000008.10:g.(?_133141509)_(134296554_?)dup | duplication | germline | Benign familial neonatal epilepsy; Benign familial neonatal seizures; Seizures, benign familial neonatal | Uncertain significance | ClinVar | RCV001938899.3, VCV001429361.3 |