CNV results report

The report contains information about the results of the Copy Number Variant Detection tool.

Normalization The Normalization section gives information about the sample-level and chromosome-level coverages. Any chromosomes with disproportionate coverages are noted; targets on these chromosomes were ignored when setting up the statistical models.

Target-level log2-ratios The target-level coverage log-ratios are presented as a graph. An example is shown in figure 26.30. On the horizontal axis, the targets are placed in the order in which they appear in the genome. On the vertical axis, the adjusted coverage log-ratio of each target is plotted. The black line represents the actually observed mean adjusted log-ratio of coverage for each target. The cyan and red lines represent the 95% confidence intervals of the expected mean adjusted log-ratios of coverages, based on the statistical model. Chromosome boundaries are indicated as vertical lines.

Image adjusted_rlrs_graph
Figure 26.30: An example graph showing the mean adjusted log-ratios of coverages in the report produced by the Copy Number Variant Detection tool. In this example, the second and ninth chromosomes are amplified, and the log-ratios of coverages of targets on these chromosome are significantly higher than for targets on other chromosomes. The black line in these regions is outside the boundaries defined by the cyan and red lines.

CNV statistics The last section in the report provides some information about the number of CNVs called in the region-level prediction results. The number of uncalled or filtered regions are also shown.