Fig. 4

Analysis of DUP5 and DUP26 complex structures. a Sequence read depth (SRD) analysis of three individuals heterozygous for the DUP5 variant. b Representative fibre-FISH images from the DUP5 index sample HG02585. Clones and fluorescent labels as shown in Fig. 1. c Representative fibre-FISH images from the DUP5 index sample HG02585. Clones and fluorescent labels as shown in Fig. 1, except the red probe is fosmid G248P89366H1 and the pink probe is the glycophorin E repeat-specific PCR product. d Schematic showing design of PCR primers for specific amplification (black arrows) on reference and DUP5 structures. The ethidium bromide stained agarose gel shows a ~ 8 kb PCR product generated by these DUP5 specific primers. HG02554 is the DUP5 sample, “-” indicates a negative control with no genomic DNA and the marker, indicated by “m”, is Bioline Hyperladder 1 kb+. The triangles indicate increasing PCR annealing temperature from 65 °C to 67 °C. e Sequence read depth (SRD) analysis (left) and fibre-FISH analysis (right) of the index sample HG03729 heterozygous for DUP26 variant. Fosmid clones for fibre-FISH are as Fig. 1, except with the addition of the glycophorin E repeat-specific PCR product labelled in pink (c, d) or green (e)