Variant DetailsVariant: dgv943e212 Internal ID | 20149399 | Landmark | | Location Information | | Cytoband | 17q21.31 | Allele length | Assembly | Allele length | hg38 | 63795 | hg19 | 63795 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3573531, esv3573342, esv3573709, esv3573520, esv3573664, esv3573720, esv3573375, esv3573397 | Samples | 400359OR, 400308SP, 401299ST, 400141CC, 400625FT, 400077EB, 401949MN, 400453LN, 401808PS, 400134WK, 400688FL, 400148MS, 400073HT, 400783MJ, 401853WR, 401859GS, 401504RJ, 400681MC, 401017SC, 402001SR, 400249BC, 400135DR, 400376SJ, 400677HD, 401265CB, 400177SJ, 401105WS, 401836SI, 401576WC, 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) | dgv943e212
| Frequency | Sample Size | 873 | Observed Gain | 32 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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