Fig. 2.

Proportion of variant types observed in cases where molecular diagnoses were achieved. Number of probands with small variants (including SNVs and indels), copy number/chromosomal variants (including CNVs, derivative chromosomes, aneuploidies, and UPD), and multiple variant types (SNVs and another variant type in a single case) are noted. SNV: single nucleotide variant, indel: insertions and deletions, UPD: uniparental disomy, CNV: copy number variant