Genomic Copy Number Variation (CNV) data from reference samples

Frequency profiles of regional genomic gains and losses for all categories (diagnostic entity, publication, cohort ...) can be accessed through the respective Cancer Types pages with visualization and sample retrieval options. Below is a typical example of the aggregated CNV data in 3201 samples of the 1000 Genomes Dragen CNV analysis set. The frequency of regional copy number gains (high level) and losses (high level) displayed for the 22 autosomes as occurrence of any of these CNVs in the 1Mb binned intervals.

The repository contains CNV tracks for many of the 1000 Genomes samples, analyzed by different platforms or data pipelines and therefore allows to compare private analysis data to results from these different call sets, to avoid interpretation biases from using reference data with a different analysis profile from the one used in your study. The plot below shows analysis specific CNV tracks for chromosome 13 in the HG01572 sample from the 1000 Genomes set, for several calling pipelines.

Please be aware that the small size of most CNVs is not correctly represented at this zoom level (overplotting due to limited resolution).