Figure 2. Detected copy number events from SNP array as displayed by Nexus copy number 7.0.

Results are separated by chromosome and presented for each individual tumour with patient id at the left margin. Presented data constitute cases harbouring pathogenic genetic variants in VHL (n = 11) as well as patients with clinical criteria of NF1 (n = 3). Data is also presented for patient 36 that harboured a VHL mutation of unknown significance. Colour annotation indicates copy number loss (red), copy number gain (blue), loss of heterozygosity (yellow) and allelic imbalance (magenta). Arrows indicates VHL (chromosome 3) and NF1 (chromosome 17) loci. Loss of heterozygosity at VHL locus was detected in 11/11 tumours with pathogenic VHL mutations and in 3/3 tumours from patients with clinical criteria of NF1.