Copy number variation is associated with segmental duplications on chromosome 17. One hundred DNA samples from the HapMap collection were analyzed by CGH on a whole-genome tiling path microarray composed of 27,000 large-insert clones. The coverage of chromosome 17 by the array is displayed in blue (top panel). (Green bars) Frequencies of DNA gains, (red bars) frequencies of DNA losses. Gene density (blue) and presence of segmental duplications along chromosome 17 (orange) are reported in bottom panels. (Black arrows) Hotspots of DNA copy number variation along the chromosome, which all occur in regions containing or flanked by blocks of segmental duplications.
