nsv5200296
- 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:338,193
- Description:GRCh37/hg19 Xq28(chrX:152649825-152988014) AND Rett syndrome
- Publication(s):Christodoulou et al. 2001, Schaefer et al. 2013
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 761 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 762 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5200296 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 153,384,367 | 153,722,559 |
| nsv5200296 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 152,649,825 | 152,988,014 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16736641 | copy number gain | Multiple | Multiple | Atypical Rett syndrome; MECP2-Related Disorders; RETT SYNDROME; RTT; Rett syndrome; Rett syndrome | Pathogenic | ClinVar | RCV001291983.1, VCV000997082.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16736641 | Remapped | Good | NC_000023.11:g.(?_ 153384367)_(153722 559_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 153,384,367 | 153,722,559 |
| nssv16736641 | Submitted genomic | NC_000023.10:g.(?_ 152649825)_(152988 014_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,649,825 | 152,988,014 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16736641 | GRCh37: NC_000023.10:g.(?_152649825)_(152988014_?)dup | copy number gain | unknown | Atypical Rett syndrome; MECP2-Related Disorders; RETT SYNDROME; RTT; Rett syndrome; Rett syndrome | Pathogenic | ClinVar | RCV001291983.1, VCV000997082.1 |