Variant DetailsVariant: esv3576788 Internal ID | 18358300 | Landmark | | Location Information | | Cytoband | Xp22.13 | Allele length | Assembly | Allele length | hg38 | 5524 | hg19 | 5524 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9823972, essv9823974, essv9823968, essv9823975, essv9823970, essv9823971, essv9823976, essv9823973, essv9823969 | Samples | 401427CB, 401856GC, 400834SS, 400937OR, 400503HD, 400416KA, 401026AM, 400818BL, 400238BB | Known Genes | NHS | 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 | | Reference | Uddin_et_al_2014 | Pubmed ID | 25503493 | Accession Number(s) | esv3576788
| Frequency | Sample Size | 873 | Observed Gain | 9 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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