nsv5980392
- 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:131
- Description:NM_001110792.2(MECP2):c.[1046_1072del;1123AAG[
1]1152_1282del] AND Severe neonatal-onset encephalopathy with microcephaly - Publication(s):Christodoulou et al. 2001
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 60 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 56 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5980392 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 154,030,582 | 154,030,712 |
| nsv5980392 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 153,296,033 | 153,296,163 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17517452 | deletion | Multiple | Multiple | ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS; MECP2-Related Disorders; Severe neonatal-onset encephalopathy with microcephaly; Severe neonatal-onset encephalopathy with microcephaly | Likely pathogenic | ClinVar | RCV001526692.1, VCV001172690.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17517452 | Submitted genomic | NC_000023.11:g.154 030582_154030712de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 154,030,582 | 154,030,712 |
| nssv17517452 | Submitted genomic | NC_000023.10:g.153 296033_153296163de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 153,296,033 | 153,296,163 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17517452 | GRCh37: NC_000023.10:g.153296033_153296163del, GRCh38: NC_000023.11:g.154030582_154030712del | deletion | maternal | ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS; MECP2-Related Disorders; Severe neonatal-onset encephalopathy with microcephaly; Severe neonatal-onset encephalopathy with microcephaly | Likely pathogenic | ClinVar | RCV001526692.1, VCV001172690.1 |