nsv4350375
- 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:11,434
- Description:GRCh37/hg19 16q23.1(chr16:78143268-78154701) 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: 207 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 207 SVs from 42 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4350375 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 78,109,371 | 78,120,804 |
nsv4350375 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 78,143,268 | 78,154,701 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15605870 | copy number loss | Multiple | Multiple | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28; Epileptic encephalopathy, early infantile, 28; Undetermined early onset epileptic encephalopathy | Pathogenic | ClinVar | RCV000767683.1, VCV000625675.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15605870 | Remapped | Perfect | NC_000016.10:g.(?_ 78109371)_(7812080 4_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,109,371 | 78,120,804 |
nssv15605870 | Submitted genomic | NC_000016.9:g.(?_7 8143268)_(78154701 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 78,143,268 | 78,154,701 |
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 |
---|---|---|---|---|---|---|---|
nssv15605870 | GRCh37: NC_000016.9:g.(?_78143268)_(78154701_?)del | copy number loss | biparental | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28; Epileptic encephalopathy, early infantile, 28; Undetermined early onset epileptic encephalopathy | Pathogenic | ClinVar | RCV000767683.1, VCV000625675.1 |