Variant DetailsVariant: nsv822582![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg18/?name=chr4:69051355..69236133;width=800;overview=1) Internal ID | 16085056 | Landmark | | Location Information | | Cytoband | 4q13.2 | Allele length | Assembly | Allele length | hg38 | 184779 | hg19 | 184779 | hg18 | 184779 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nssv1426597, nssv1422548, nssv1421651, nssv1438765, nssv1435817, nssv1425828, nssv1428216, nssv1430526, nssv1428991, nssv1432781, nssv1434365, nssv1432005, nssv1424144, nssv1435028, nssv1441016, nssv1439374, nssv1439631, nssv1425374, nssv1423340, nssv1425691, nssv1433599 | Samples | NA18947, AK16, AK20, NA18999, NA18526, NA18969, AK10, AK6, NA18547, NA18942, NA18582, NA18973, NA18537, NA18566, NA18570, AK12, AK4, NA18972, NA18552, NA18968, NA18997 | Known Genes | UGT2B15, UGT2B17 | 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) | nsv822582
| Frequency | Sample Size | 31 | Observed Gain | 0 | Observed Loss | 21 | Observed Complex | 0 | Frequency | n/a |
|
|