Figure 2. KANSL1 whole exome and whole genome sequencing
data. KANSL1 sequencing data visualized in IGV. A) A screenshot
of the deletion in whole exome sequencing data. Reads are sorted by
start location and grouped by read pairs. Soft clipped bases are
included, making the exact breakpoint in DNA visible, even against the
complete lack of other reads in the region. B) A Screenshot of whole
genome sequencing data is shown. The deletion causes a noticeable drop
of coverage. Additional support for the detected deletion is provided by
split reads, marked in red.
Black arrow = 3‘- end of deletion (Exon 7)
Blue arrow = 5‘-end of deletion (intron 6)
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