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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