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From: EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome

<i>EHMT1</i> pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome

Figure 1. Mapping of gene variants and microdeletions to chromosome 9q34.3. Schematic of all variants relative to EHMT1 (hg38). Variants are colored by analysis group: discovery (n = 8; 2 not depicted), validation older than 1 year (n = 4; 1 not depicted), validation samples younger than 1 year (n = 4; 1 not depicted), unknown test samples with no phenotype information and partial EHMT1 duplication (n = 5 and n = 2, respectively). Genomic coordinates were not available for KS15_T, KS15_T, KS15_V, and KS20_I