Variant DetailsVariant: dgv941e212 | Internal ID | 22783868 | | Landmark | | | Location Information | | | Cytoband | 17q21.31 | | Allele length | | Assembly | Allele length | | hg38 | 80433 | | hg19 | 80433 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3582737, esv3582718, esv3582723, esv3582765, esv3582742, esv3582775, esv3582774, esv3582770, esv3582741, esv3582756, esv3582761, esv3582769, esv3582720, esv3582744, esv3582790, esv3582773, esv3582755, esv3582743, esv3582736, esv3582776, esv3582732, esv3582767, esv3582772, esv3582726, esv3582751, esv3582724, esv3582788 | | Samples | 401474CE, 400364SS, 400618GC, 401852SK, 400432VA, 401956DQ, 400512LR, 400068PW, 400852WJ, 401427CB, 401457WK, 401195PN, 401434VN, 401556KR, 401426WD, 400509CJ, 400620MT, 400347VJ, 400245SJ, 401308LD, 401136LB, 401990PR, 400674CA, 400606HW, 400482MD, 400743LS, 401263HS, 400588BE, 401239PR, 400773GS, 400203NA, 400348DK, 401495NR, 400582WS, 401192MJ, 400442FE, 401691HA, 401251WN, 400533BB, 400702PA, 401119DK, 400496BL, 401804FG, 400381CA, 401084BD, 401943KA, 400611GG, 401359HF, 401677MM, 400654YW, 400770MA, 400483DP, 400053LE, 401315HK, 401881TJ, 401438HT, 401571SD, 400769SL, 401100SJ, 402073LQ, 401372RR, 401358VP, 401354KM, 400785AK, 400021ME, 400238BB, 401066MM, 401207DA | | 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) | dgv941e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 68 | | Observed Complex | 0 | | Frequency | n/a |
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