nsv3882710
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:85,250
- Description:
See descriptions for individual calls in download files
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 218 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 218 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3882710 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 18,425,605 | 18,510,854 |
| nsv3882710 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 18,443,725 | 18,528,974 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123204 | deletion | Multiple | Multiple | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 2; Infantile spasms syndrome | Pathogenic | ClinVar | RCV000170031.1, VCV000189581.1 |
| nssv15123205 | deletion | Multiple | Multiple | Atypical Rett syndrome | Pathogenic | ClinVar | RCV000170032.1, VCV000189581.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15123204 | Submitted genomic | NC_000023.11:g.(?_ 18425605)_(1851085 4_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 18,425,605 | 18,510,854 |
| nssv15123205 | Submitted genomic | NC_000023.11:g.(?_ 18425605)_(1851085 4_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 18,425,605 | 18,510,854 |
| nssv15123204 | Submitted genomic | NC_000023.10:g.(?_ 18443725)_(1852897 4_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 18,443,725 | 18,528,974 |
| nssv15123205 | Submitted genomic | NC_000023.10:g.(?_ 18443725)_(1852897 4_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 18,443,725 | 18,528,974 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15123204 | GRCh37: NC_000023.10:g.(?_18443725)_(18528974_?)del, GRCh38: NC_000023.11:g.(?_18425605)_(18510854_?)del | deletion | see ClinVar for details | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 2; Infantile spasms syndrome | Pathogenic | ClinVar | RCV000170031.1, VCV000189581.1 |
| nssv15123205 | GRCh37: NC_000023.10:g.(?_18443725)_(18528974_?)del, GRCh38: NC_000023.11:g.(?_18425605)_(18510854_?)del | deletion | unknown | Atypical Rett syndrome | Pathogenic | ClinVar | RCV000170032.1, VCV000189581.1 |