nsv4716480
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:36,300
- Description:NC_000016.10:g.78152047_78188346del AND Developmental and epileptic encephalopathy, 28
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 276 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 276 SVs from 44 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4716480 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 78,152,047 | 78,188,346 | ||
nsv4716480 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 78,185,944 | 78,222,243 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16252133 | deletion | Multiple | Multiple | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28; Epileptic encephalopathy, early infantile, 28; Undetermined early onset epileptic encephalopathy | Pathogenic | ClinVar | RCV001255970.2, VCV000978033.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16252133 | Submitted genomic | NC_000016.10:g.781 52047_78188346del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 78,152,047 | 78,188,346 | ||
nssv16252133 | Remapped | Perfect | NC_000016.9:g.7818 5944_78222243del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,185,944 | 78,222,243 |
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 |
---|---|---|---|---|---|---|---|
nssv16252133 | GRCh38: NC_000016.10:g.78152047_78188346del | deletion | maternal | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28; Epileptic encephalopathy, early infantile, 28; Undetermined early onset epileptic encephalopathy | Pathogenic | ClinVar | RCV001255970.2, VCV000978033.2 |