Fig. 1

Illustration of the genomic region harboring the NF1 and adjacent genes. Red, green, and blue intervals represent the deletion extent in the recurrently observed type-1, type-2, and type-3 NF1 deletions respectively. NF1 is depicted in orange; SUZ12 and its pseudogene SUZ12P1 in green. Purple intervals indicate low-copy repeats (LCRs) implicated in non-allelic homologous recombination (NAHR) at the origin of type-1 and type-3 deletions. Arrows adjacent to gene symbols denote transcriptional orientation. Cen and tel refer to centromeric and telomeric direction, respectively