nsv1398160
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:52,548
- Description:hg18chrX:g.(48,802,381_48,809,279)_(48,829,265
_48,854,335)del AND Early onset epileptic encephalopathy - Publication(s):Abidi et al. 2015
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 239 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 234 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv1398160 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 49,057,906 | 49,057,906 | 49,110,453 | 49,110,453 |
| nsv1398160 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 48,915,437 | 48,922,335 | 48,942,321 | 48,967,391 | ||
| nsv1398160 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 48,802,381 | 48,809,279 | 48,829,265 | 48,854,335 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv8639513 | deletion | Multiple | Multiple | Early onset epileptic encephalopathy | Pathogenic | ClinVar | RCV000186607.2, VCV000190973.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv8639513 | Remapped | Good | NC_000023.11:g.(49 057906_49057906)_( 49110453_49110453) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 49,057,906 | 49,057,906 | 49,110,453 | 49,110,453 |
| nssv8639513 | Submitted genomic | NC_000023.10:g.(48 915437_48922335)_( 48942321_48967391) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,915,437 | 48,922,335 | 48,942,321 | 48,967,391 | ||
| nssv8639513 | Submitted genomic | NC_000023.9:g.(488 02381_48809279)_(4 8829265_48854335)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 48,802,381 | 48,809,279 | 48,829,265 | 48,854,335 |
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 |
|---|---|---|---|---|---|---|---|
| nssv8639513 | GRCh37: NC_000023.10:g.(48915437_48922335)_(48942321_48967391)del, NCBI36: NC_000023.9:g.(48802381_48809279)_(48829265_48854335)del | deletion | de novo | Early onset epileptic encephalopathy | Pathogenic | ClinVar | RCV000186607.2, VCV000190973.1 |