Fig. 1.
Association of breakpoints and SDs. Genomic locations of SDs are indicated by BlastZ (32) self-chain matches to the human reference sequence (black vertical bars). SDs coinciding with deletion/duplication breakpoints are highlighted by a red dashed line. The association of breakpoints and SDs [consistent with earlier observations (1, 2, 9, 16, 22)] indicates that nucleotide sequence signatures can facilitate breakpoint mapping.