Variant DetailsVariant: dgv938e212![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg38/?name=chr17:46110126..46215376;width=800;overview=1) Internal ID | 20149394 | Landmark | | Location Information | | Cytoband | 17q21.31 | Allele length | Assembly | Allele length | hg38 | 105251 | hg19 | 105251 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3573330, esv3573441, esv3573509, esv3573419, esv3573353 | Samples | 400316SL, 401292ER, 400739SS, 401275SJ, 401117NA, 401966SR, 400834SS, 400897MD, 400948EV, 401190WC, 400523GB, 400131CM, 402062KR, 402028BD, 401842BJ, 400051MR, 401687LR, 400882DD, 401538NS, 400033KC, 400121PL, 400817MB, 400729HC, 400198MD, 400302HW, 401397WN, 401652HL, 401864CV, 401067BD, 400624RJ, 401894PD, 401413RG, 400586RD, 401861GG, 400996MC, 401152MV, 400079AP | 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) | dgv938e212
| Frequency | Sample Size | 873 | Observed Gain | 37 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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