Table 2

CNVs identified in more than one unrelated individual

CNV eventCNV typeIndividualsĀ (n)
TotalGene panel NGS, n=550WGS (Illumina) n=605WGS (Complete Genomics) n=77
CLN3 ex8-9Del6150
MERTK ex1-7Del3111
NPHP1 (whole gene)Del/Dup7/101/35/61/1
CNGB3 ex9-10Del413*0
CYP4V2 (whole gene)Dup5140
  • *Indicated, but unconfirmed, as CNGB3 ex7-10 for two individuals, and CNGB3 ex8-10 for one individual using the Canvas read-depth algorithm.

  • Del, deletions; dup, duplications; NGS, next-generation sequencing; WGS, whole genome sequencing.