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Fig. 5 | BMC Medical Genetics

Fig. 5

From: Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

Fig. 5

Copy number variant identification by in-house CNV tool and EXCAVATOR2 with WES. a The horizontal axis indicates chromosomal position, and the vertical axis indicates the log2 normalized depth ratio; 0 indicates 2 copies and − 1.0 indicates 1 copy deletion, respectively. The red line indicates SB246–482, light-blue line indicates SB246–483, and green line indicates SB246–484, respectively. A heterozygote deletion in the STRC and CATSPER2 region is seen in only SB246–482. The hypothesized mechanisms for the event is shown to the right. b The result of EXCAVATOR2 also indicates 1 copy deletion in the region where STRC and CATSPER2 as well as PPIP5K1 and CKMT1A were located in

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