Fig. 2 | npj Genomic Medicine

Fig. 2

From: Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

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

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