High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(Downloading may take up to 30 seconds. If the slide opens in your browser, select File -> Save As to save it.)

Click on image to view larger version.

Figure 2.
Figure 2.

Comparison of CNVs detected in the current cohort with DGV CNVs within the CSMD1 gene. (Top row) Chromosome 8 genomic sequence coordinates for the CSMD1 gene. (Second row) Exonic structure of the 70-exon CSMD1 gene. (Red vertical lines) Exons; (black horizontal line) the extent of the mRNA transcript. Owing to the scale of the diagram, each exon is treated as an equivalent size, and exons with short intervening sequences are drawn adjacent to each other. (Third row) CNVs within the CSMD1 gene reported in the Database of Genomic Variants. CNVs with a lighter shade of blue overlap one or more CSMD1 exons. (Bottom row) CNVs within the CSMD1 gene reported in this study. Numbers adjacent to two CNVs (designated by asterisks) indicate the number of instances in which that exact CNV is reported. CNVs with a lighter shade of purple overlap one or more CSMD1 exons.

This Article

  1. Genome Res. 19: 1682-1690

Preprint Server