nsv7098350
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:484,267
- Description:NC_000023.10:g.(?_153195397)_(153642547_?)dup 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: 824 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 818 SVs from 69 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098350 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 153,929,944 | 154,414,210 |
| nsv7098350 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 153,195,397 | 153,642,547 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18789976 | duplication | Multiple | Multiple | ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS; MECP2-Related Disorders; Severe neonatal-onset encephalopathy with microcephaly; Severe neonatal-onset encephalopathy with microcephaly | Pathogenic | ClinVar | RCV003113631.2, VCV002425259.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18789976 | Remapped | Pass | NC_000023.11:g.(?_ 153929944)_(154414 210_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 153,929,944 | 154,414,210 |
| nssv18789976 | Submitted genomic | NC_000023.10:g.(?_ 153195397)_(153642 547_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 153,195,397 | 153,642,547 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18789976 | GRCh37: NC_000023.10:g.(?_153195397)_(153642547_?)dup | duplication | germline | ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS; MECP2-Related Disorders; Severe neonatal-onset encephalopathy with microcephaly; Severe neonatal-onset encephalopathy with microcephaly | Pathogenic | ClinVar | RCV003113631.2, VCV002425259.2 |