Variant DetailsVariant: nsv828128![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg18/?name=chr17:76247436..77313922;width=800;overview=1) Internal ID | 16090602 | Landmark | | Location Information | | Cytoband | 17q25.3 | Allele length | Assembly | Allele length | hg38 | 1077447 | hg19 | 1070677 | hg18 | 1066487 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nssv1437828, nssv1428711, nssv1430222, nssv1430927, nssv1422991, nssv1434773, nssv1429469, nssv1436232, nssv1434056, nssv1430983, nssv1426202, nssv1423013, nssv1425390, nssv1424633, nssv1433314, nssv1431711, nssv1427919, nssv1432524 | Samples | AK2, NA18947, AK16, AK20, NA18526, AK10, NA18547, NA18582, NA18949, AK14, AK8, NA18566, NA18570, AK18, AK12, AK4, NA18972, NA18552 | Known Genes | AATK, AATK-AS1, ACTG1, ARL16, AZI1, BAHCC1, BAIAP2, BAIAP2-AS1, C17orf70, C17orf89, CCDC137, CHMP6, ENTHD2, FSCN2, HGS, LINC00482, LOC100130370, MIR1250, MIR3065, MIR3186, MIR338, MIR4740, MIR657, MIR6786, MRPL12, NPLOC4, OXLD1, PDE6G, RPTOR, SLC25A10, SLC38A10, TMEM105, TSPAN10 | 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) | nsv828128
| Frequency | Sample Size | 31 | Observed Gain | 0 | Observed Loss | 18 | Observed Complex | 0 | Frequency | n/a |
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