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. Author manuscript; available in PMC: 2017 Aug 1.
Published in final edited form as: Ann Otol Rhinol Laryngol. 2016 Jul 28;125(11):918–923. doi: 10.1177/0003489416661345

Figure 2.

Figure 2

CNV identification by a CNV-calling script implemented with TGE+MPS. The horizontal axis indicates chromosomal position, and the vertical axis indicates the number of gene copies shown as a ratio; 1.0 indicates the normal 2 copies (black lines), and 0.5 and 0.0 indicates 1 copy (heterozygous deletion) or 0 copy (homozygous deletion), respectively indicated by red lines. Likewise, a figure above 1.0 shows copy gain (heterozygous or homozygous gene duplication) as indicated by blue lines.

A homozygous deletion in the STRC region and a heterozygous deletion in the pseudo-STRC gene (pSTRC) is seen in patients #167 and #4590. A homozygous deletion of the last 11 exons in STRC (left side in the gene diagram) and homozygous duplication of the corresponding region of pSTRC is seen in patient #260. The hypothesized mechanisms for these events are shown to the right.