nsv4454158
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:5,295
- Description:NC_000009.12:g.(?_128242212)_(128247506_?)del AND Developmental and epileptic encephalopathy, 31
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 85 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4454158 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 128,242,212 | 128,247,506 |
| nsv4454158 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 131,004,491 | 131,009,785 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15770278 | 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 | RCV000801971.7, VCV000647455.9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15770278 | Submitted genomic | NC_000009.12:g.(?_ 128242212)_(128247 506_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 128,242,212 | 128,247,506 |
| nssv15770278 | Submitted genomic | NC_000009.11:g.(?_ 131004491)_(131009 785_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 131,004,491 | 131,009,785 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15770278 | GRCh37: NC_000009.11:g.(?_131004491)_(131009785_?)del, GRCh38: NC_000009.12:g.(?_128242212)_(128247506_?)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 | RCV000801971.7, VCV000647455.9 |