Variant DetailsVariant: esv3573342Internal ID | 18354854 | Landmark | | Location Information | | Cytoband | 17q21.31 | Allele length | Assembly | Allele length | hg38 | 50867 | hg19 | 50867 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv943e212 | Supporting Variants | essv9814564, essv9814572, essv9814562, essv9814563, essv9814568, essv9814571, essv9814570, essv9814566, essv9814565, essv9814561, essv9814569 | Samples | 400308SP, 400625FT, 400077EB, 400783MJ, 401853WR, 401859GS, 400677HD, 401105WS, 401993HM, 400138LA, 400494ML | Known Genes | KANSL1, KANSL1-AS1 | 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) | esv3573342
| Frequency | Sample Size | 873 | Observed Gain | 11 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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