Variant DetailsVariant: dgv939e212 Internal ID | 20149395 | Landmark | | Location Information | | Cytoband | 17q21.31 | Allele length | Assembly | Allele length | hg38 | 602130 | hg19 | 602130 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3573687, esv3573542, esv3573676, esv3573609, esv3573498, esv3573620, esv3573653, esv3573598, esv3573465, esv3573308, esv3573364, esv3573408, esv3573642, esv3573454, esv3573430, esv3573631 | Samples | 401636WR, 401749DJ, 400701MM, 400880TM, 400569WC, 401212HJ, 400534ME, 401640WJ, 400802DP, 400789KV, 401400NP, 400917CG, 401592NR, 401074CM, 400272AE, 400995MS, 400949AM, 400595CP, 401442WR, 401845MJ, 401698SB, 401096SL, 400199SA, 401132CH, 401936BA, 401390DG, 400528LR, 400155CW, 401258PC, 401173AI, 401860TJ, 400066MA, 400343BD, 400061DE, 401104DM, 400206SC, 400333CC, 400653GP, 400579HJ, 401609MB, 400002HK, 401732HW, 400383HL, 401175FA, 400615RI, 400038CK, 401591BE, 401540NA, 400207HN, 401950MD, 401278DM, 400093BL, 400758KP, 400994HJ, 401475MK, 400076LC, 400124FR, 400844GP, 400686BM, 401606CG, 401892MJ, 400639RP, 400846MC, 401711WS, 401011PJ, 400422PN, 401580CA, 400258BC, 401200BD, 400999HR, 400721DJ, 401696CG, 400474GF, 401182OC, 400430KV, 401361GG, 401277RA, 401025SM, 401611CD, 400205SP, 4000046CJ, 401143LK, 401056TJ, 401215MJ, 400323AA, 401135CS, 401797LS, 401817MC, 401829FJ, 400525MR, 401250WD, 400108BJ, 402023EC, 401932GN, 401882CR, 400300SD, 401612HB, 401480PG, 400243CK, 400152MR, 400091BS, 400668TD | Known Genes | ARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1 | 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) | dgv939e212
| Frequency | Sample Size | 873 | Observed Gain | 102 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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