The two novel SVs overlap the previously described duplication found in a single NCMD family of Danish origin15 and further refine the 5p15 NCMD locus to a shared region of 39 kb in a gene desert downstream of IRX1 and upstream of ADAMTS16 (800 kb and 693.9 kb from the respective transcription start sites, Fig. 4). The gene discussed is IRX1; the disease is North Carolina macular dystrophy.