Variant DetailsVariant: dgv679n67Internal ID | 20147191 | Landmark | | Location Information | | Cytoband | 2q31.2 | Allele length | Assembly | Allele length | hg38 | 1025 | hg19 | 1025 | hg18 | 1025 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nsv821817, nsv821828, nsv821822, nsv821816, nsv821820, nsv821825, nsv821826, nsv821823, nsv821815, nsv821824, nsv821829, nsv821818, nsv821819 | Samples | AK16, AK20, NA18999, AK6, NA18547, NA18942, NA18949, AK14, AK8, NA18951, NA18537, NA18570, NA18542, NA18564, AK18, AK4, NA18972, NA18552, NA18997 | Known Genes | MIR548N, PRKRA | 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) | dgv679n67
| Frequency | Sample Size | 31 | Observed Gain | 19 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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