Internal ID | 18328204 |
Landmark | |
Location Information | |
Cytoband | Xp22.12 |
Allele length | Assembly | Allele length | hg38 | 518559 | hg19 | 518559 |
|
Variant Type | CNV gain |
Copy Number | 3 |
Allele State | |
Allele Origin | |
Probe Count | |
Validation Flag | |
Merged Status | S |
Merged Variants | esv3576793 |
Supporting Variants | |
Samples | 401428LD |
Known Genes | GPR64, PHKA2, PHKA2-AS1, PPEF1 |
Method | SNP array |
Analysis | We used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection. |
Platform | Affymetrix CytoScan HD 2.7M array |
Comments | Number of probes=517 |
Reference | Uddin_et_al_2014 |
Pubmed ID | 25503493 |
Accession Number(s) | essv9824074
|
Frequency | Sample Size | 873 | Observed Gain | 1 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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