Variant DetailsVariant: dgv725n67![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg18/?name=chr22:18079493..18164949;width=800;overview=1) Internal ID | 20147237 | Landmark | | Location Information | | Cytoband | 22q11.21 | Allele length | Assembly | Allele length | hg38 | 85457 | hg19 | 85457 | hg18 | 85457 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nsv828944, nsv828945, nsv828941, nsv828940 | Samples | NA18969, NA18949, AK14, NA18542 | Known Genes | GNB1L, GP1BB, SEPT5, SEPT5-GP1BB, TBX1 | 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) | dgv725n67
| Frequency | Sample Size | 31 | Observed Gain | 4 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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