A schematic representation of NODAL and EIF4EBP2 . Note convergent transcripts for NODAL and EIF4EBP2 (black arrow heads representing gene’s orientation). Breakpoint sequences for NODAL deletions are also shown. The proximal reference sequence and its matching proband breakpoint sequences are shown in green for LAT1415 and orange for CVG007, the distal reference sequence and its matching proband breakpoint sequences are in blue for LAT1415 and purple for CVG007, and microhomology at the junction is shown in red. The 46 kb deletion in LAT1415 presumably results from AAMR between Alu Sx1/ Alu Sq2, whereas the 4 kb deletion in CVG007 proposed to result from AAMR between Alu Sg/ Alu Sq2
