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. 2023 Jun 7;6(8):e202302025. doi: 10.26508/lsa.202302025

Figure 3. Biallelic FGF12 SVs analyzed by optical genome mapping.

Figure 3.

The reference genome (GRCh38) is represented by a green bar, and the alleles of patient 1 are shown in blue. Allele 1 has an intragenic duplication (shown by orange arrows), and allele 2 has a deletion (shown by an orange triangle). OGM with 102-fold effective genome coverage detected a 65-kb deletion (chr3:192,081,487–192,146,213) and a 152-kb duplication (chr3:192,346,230–192,498,352) including exon 3 in FGF12. FGF12 is a reverse strand gene (a black arrow). Ex, exon.