Variant DetailsVariant: dgv26e212 | Internal ID | 22782953 | | Landmark | | | Location Information | | | Cytoband | 1p36.11 | | Allele length | | Assembly | Allele length | | hg38 | 10034 | | hg19 | 10034 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3577788, esv3577789, esv3577790 | | Samples | 401482CB, 401021SC, 400075MR, 400359OR, 400927BD, 400063BR, 401212HJ, 401146US, 401819BS, 400852WJ, 401151RJ, 400625FT, 401721CP, 401733CG, 401603HH, 401674DD, 400277LM, 400797ST, 401030GI, 401136LB, 401551MB, 401258PC, 400674CA, 400066MA, 401869BG, 400882DD, 400203NA, 400320RN, 401165SB, 401766MR, 400374LB, 400338SR, 400564SN, 400478WE, 401133JG, 400344DR, 401773AM, 400107MJ, 400198MD, 401732HW, 400763BT, 400007RG, 401714BM, 401691HA, 401251WN, 401230NL, 401853WR, 400285FA, 401210PB, 401278DM, 401862AN, 401771OS, 401952UH, 400681MC, 400854SG, 401493HC, 400371GA, 401410BJ, 400177CG, 400444MM, 401361GG, 400728PB, 401203MP, 400732MA, 401496SL, 400158FB, 401315HK, 401847RK, 400677HD, 401314MK, 400205SP, 401135CS, 401797LS, 400271SR, 400849SH, 401266HM, 400108BJ, 402023EC, 401932GN, 401480PG, 400243CK | | Known Genes | NIPAL3 | | 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) | dgv26e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 81 | | Observed Complex | 0 | | Frequency | n/a |
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