Variant DetailsVariant: dgv2224e212 Internal ID | 20150680 | Landmark | | Location Information | | Cytoband | Xp22.2 | Allele length | Assembly | Allele length | hg38 | 3947 | hg19 | 3947 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3573594, esv3573593, esv3573590, esv3573592, esv3573595, esv3573591 | Samples | 400920MK, 400075MR, 401706BJ, 400987FB, 401212HJ, 400534ME, 401640WJ, 401275SJ, 401769CR, 401261HD, 400876OG, 401235IA, 400970VE, 401415CB, 401841OB, 401183HP, 401899MB, 401151RJ, 401845MJ, 400834SS, 401721CP, 401355CD, 400453LN, 400425SL, 401030GI, 400523GB, 401390DG, 400893ZE, 400827MM, 401281BP, 400718PS, 400669LD, 401263HS, 400051MR, 400882DD, 402038MR, 401401BA, 401155ML, 401596PJ, 400564SN, 401495NR, 401532LJ, 401746WW, 401353BC, 401979TB, 401505WI, 401900RJ, 402063WM, 400040CN, 400070PC, 401540NA, 401477ST, 400977SC, 400207HN, 402052ZA, 400496BL, 401804FG, 401185LE, 401968HL, 401618HR, 401879HJ, 401942MP, 401075MN, 400006DK, 401812HG, 401443JK, 400387HE, 400639RP, 400603CJ, 401369GR, 400354TJ, 400450FG, 401514BA, 401922MW, 401359HF, 401535RJ, 401595BL, 400732MA, 401898DS, 401496SL, 401844ZD, 401288LD, 401010HT, 400759FV, 401894PD, 400501SJ, 400128MJ, 401438HT, 401314MK, 401571SD, 400859SC, 401105WS, 401735LE, 400833BB, 400213DB, 400021ME, 400243CK, 400152MR, 401490TL | Known Genes | RAB9A | 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) | dgv2224e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 99 | Observed Complex | 0 | Frequency | n/a |
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