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Figure 1 | BMC Ear, Nose and Throat Disorders

Figure 1

From: Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness

Figure 1

Typical examples of CNVs detected in patient samples. The x-axis is the exon location sequentially arranged for the targeted deafness genes as listed in the Additional file 1: Table S1. The y-axis gives the RCNV ratio calculated for CNVs. (A) An example of homozygous deletion of the exon 1 of the DIAPH1 gene. (B) This example shows a heterozygous deletion of the exon 20 of the OTOA gene. (C) An example of a CNV gain of exon 8 of DIAPH1 gene. The ratio of exon 8 of DIAPH1 gene was close to 2, suggesting that the DNA segment containing this exon was doubled compared to the normal copy number. (D) This example shows heterozygous deletion covering two adjacent genes, STRC and CATSPER2 on Chromosome 15 and span at least 48 k bps.

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