Fig. 4: Characterization of detected rare coding copy-number variants (CNVs) by locus, size, and genic content. | Genetics in Medicine

Fig. 4: Characterization of detected rare coding copy-number variants (CNVs) by locus, size, and genic content.

From: Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida

Fig. 4

(a) Chromosomal location of rare coding CNVs found in spina bifida (SB) cases shows broad distribution across the genome. (b) Size breakdown of the rare coding CNV call set in SB cases. Observed rare coding CNVs from both cohorts are categorized into six bins corresponding to the detected CNV size. (c) Comparison within cohorts of the mean value of genes affected by rare coding CNVs per genome in cases compared with controls **p < 0.01; ****p < 0.0001.

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