nsv5564479
- 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:1,640,265
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV001364955.2
- ClinVar: RCV001383155.2
- ClinVar: VCV001056169.3
- MONDO: 0014598
- MONDO: 0100062
- MedGen: C0393706
- MedGen: C4225357
- OMIM: 602377.0001
- OMIM: 602377.0002
- OMIM: 602377.0003
- OMIM: 602377.0004
- OMIM: 602377.0005
- OMIM: 602377.0006
- OMIM: 616346
- OMIM: PS308350
- Orphanet: 1934
- Orphanet: 2382
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4886 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 4888 SVs from 98 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5564479 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 126,614,450 | 128,254,714 |
nsv5564479 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 129,376,729 | 131,016,993 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17059513 | deletion | Multiple | Multiple | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31; Epileptic encephalopathy, early infantile, 31; Lennox-Gastaut syndrome; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001364955.2, VCV001056169.3 |
nssv17171428 | deletion | Multiple | Multiple | Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile | Pathogenic | ClinVar | RCV001383155.2, VCV001056169.3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17059513 | Remapped | Perfect | NC_000009.12:g.(?_ 126614450)_(128254 714_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 126,614,450 | 128,254,714 |
nssv17171428 | Remapped | Perfect | NC_000009.12:g.(?_ 126614450)_(128254 714_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 126,614,450 | 128,254,714 |
nssv17059513 | Submitted genomic | NC_000009.11:g.(?_ 129376729)_(131016 993_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 129,376,729 | 131,016,993 | ||
nssv17171428 | Submitted genomic | NC_000009.11:g.(?_ 129376729)_(131016 993_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 129,376,729 | 131,016,993 |
No validation data were submitted for this variant
Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.
Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17059513 | GRCh37: NC_000009.11:g.(?_129376729)_(131016993_?)del | deletion | germline | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31; Epileptic encephalopathy, early infantile, 31; Lennox-Gastaut syndrome; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001364955.2, VCV001056169.3 |
nssv17171428 | GRCh37: NC_000009.11:g.(?_129376729)_(131016993_?)del | deletion | germline | Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile | Pathogenic | ClinVar | RCV001383155.2, VCV001056169.3 |