Fig. 3.

Mosaic 14q32.2 26-kb microdeletion. a–c Normalized depth across pedigree sequenced for subject P12. Shown here is the genomic region between 101.21 MB and 101.34 MB on chromosome 14 (hg19 coordinates). d Annotations for the genomic region. The orange box represents the Canvas CNV call boundaries, the green box represents breakpoint assembled coordinates of the deletion from the Manta SV caller, the black lines represent subjects from Kagami et al.³⁶ with deletions in this region, the blue box represents the gene boundaries of the imprinted gene MEG3. e Average depth across the region of the CNV call for samples across an internal reference population; depth for the proband is indicated with a horizontal dashed line. f Variant allele frequency for the SNVs within the deleted region. CNV copy-number variant, SNV single-nucleotide variant, SV structural variant.