nsv3880254
- 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:53,363
- Description:NM_003159.2(CDKL5):c.(?_-253)_-162-27968del AND Atypical Rett syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 175 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 175 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3880254 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 18,425,605 | 18,478,967 |
| nsv3880254 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 18,443,725 | 18,497,087 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123201 | deletion | Multiple | Multiple | Atypical Rett syndrome | Pathogenic | ClinVar | RCV000170026.1, VCV000189576.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15123201 | Submitted genomic | NC_000023.11:g.(?_ 18425605)_18478967 del | GRCh38 (hg38) | NC_000023.11 | ChrX | 18,425,605 | 18,478,967 |
| nssv15123201 | Submitted genomic | NC_000023.10:g.(?_ 18443725)_18497087 del | GRCh37 (hg19) | NC_000023.10 | ChrX | 18,443,725 | 18,497,087 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15123201 | GRCh37: NC_000023.10:g.(?_18443725)_18497087del, GRCh38: NC_000023.11:g.(?_18425605)_18478967del | deletion | de novo | Atypical Rett syndrome | Pathogenic | ClinVar | RCV000170026.1, VCV000189576.1 |