Figure 5.

Copy number variations at the C4/CYP21A2 locus in normal, healthy individuals. Schematic map of chromosome 6 at 32,040 kb to 32,200 kb; the positions interrogated by probe sets are shown by asterisks; the bracket shows the region of variable copy numbers (A). Pulsed field electrophoresis analysis of the C4/CYP21A2 region of four individuals showing two copies (C2), four copies (C4), five copies (C5) and six copies (C6) of the region. The ruler to the left shows fragment size in kb; observed long and short alleles are indicated by L and S respectively (B). graCNV analysis of chromosome 6 at 32,045 kb to 32,194 kb; log2 copy number differences are shown relative to individual C2 (two copies) for individuals C4 (light gray, four copies), C5 (dark gray, five copies) C6 (black, 6 copies).