Variant DetailsVariant: dgv781n67![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg18/?name=chr22:48933769..49095434;width=800;overview=1) Internal ID | 20147293 | Landmark | | Location Information | | Cytoband | 22q13.33 | Allele length | Assembly | Allele length | hg38 | 161221 | hg19 | 161221 | hg18 | 161666 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nsv829331, nsv829332 | Samples | AK14, NA18968 | Known Genes | DENND6B, HDAC10, MAPK11, MAPK12, MOV10L1, PANX2, PLXNB2, SELO, TRABD, TUBGCP6 | Method | Oligo aCGH | Analysis | To select parameters for calling CNVs (that is, the statistical threshold of the ADM2 algorithm, the minimum +/- log2 ratio and the minimum number of consecutive probes in a CNV interval), we calculated the sensitivity and positive predictive value based on the comparison of aCGH-based CNV calls (using our high-resolution Agilent 24M platform) with read-depth sequence data for two samples from Korean individuals (AK1 and AK2). We attempted to obtain `absolute' copy number status of the sample from NA10851, which was used as the reference sample for aCGH experiments in this study. For this, we used read-depth data for NA10851 obtained from massively parallel sequencing by the Illumina GA II data. The read-depth data represent the copy number status of NA10851 as compared to the human reference genome (hg18) because the short read sequences were aligned to hg18. | Platform | Agilent 24M aCGH | Comments | | Reference | Park_et_al_2010 | Pubmed ID | 20364138 | Accession Number(s) | dgv781n67
| Frequency | Sample Size | 31 | Observed Gain | 2 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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