Fig. 1

The principle of CNV detection using coverage depth information. The figure depicts the change in coverage depth of different target regions in a sample in the case of CNV events. The normal coverage depth may vary between regions, as shown for target regions A and C. It is therefore important to have access to data on normal coverage depth for each region. Deletion of allele 1 in target region B reduces the coverage in that region by 50% (i.e., to 1/2), compared to the normal or expected coverage depth for the region. Duplication of allele 1 in target region D increases the coverage in that region by 50% (i.e., to 3/2), again compared to the normal coverage depth for the region