NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

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Figure 4.
Figure 4.

Four novel NAHR-prone regions on chromosome 2q12.2q13. (Top) Schematic representation of paralogous DP-LCRs (colored arrows) with their sequence homology and distance in between. UCSC display of LCR clusters and deletion CNVs found in patients 1–8 (middle) and deletion (red) and duplication (blue) CNVs from the DECIPHER and ISCA databases (bottom). Green arrows indicate the ST6GAL2, SLC5A7, EDAR, and RANBP2 genes proposed to contribute to the patients' phenotypes.

This Article

  1. Published in Advance May 8, 2013, doi: 10.1101/gr.152454.112 Genome Res. 23: 1395-1409

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