Rare large CNVs (>500 kb) in 43 of 433 unrelated adults with tetralogy of Fallot.

<p>Case, subjects from discovery sample (n = 433) with TOF; Locus, cytogenetic location of CNV; CNV start, hg18 (NCBI Build 36.1, March 2006); CNV size, in base pairs; CN, type of copy number aberration; Very rare, not found in 2,773 controls (•), see text for details; Confirmed, by qPCR and/or FISH (•) or not done (ND); Origin, <i>de novo</i> or inherited (where known); # of genes, number of known genes overlapped by a CNV as annotated in the Database of Genomic Variants (<a href="http://projects.tcag.ca/variation/" target="_blank">http://projects.tcag.ca/variation/</a>; September 2011); Candidate gene(s), selected based on reported cardiovascular system involvement; References derived from systematic searches of human (e.g., Online Mendelian Inheritance in Man; <a href="http://www.omim.org/" target="_blank">http://www.omim.org/</a>) and model organism (e.g., Mouse Genome Informatics; <a href="http://www.informatics.jax.org/" target="_blank">http://www.informatics.jax.org/</a>) databases presented in Table 4 in <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002843#pgen.1002843.s001" target="_blank">Supporting Information S1</a>.</p>a<p><a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002843#pgen-1002843-g002" target="_blank">Figure 2</a> in <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002843#pgen.1002843.s001" target="_blank">Supporting Information S1</a>.</p>b<p><a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002843#pgen-1002843-t003" target="_blank">Table 3</a>.</p>c<p>Neighbor of a top disease gene (GATA4, NKX2-5, TBX5), as identified in the pathway analysis (Table 11 in <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002843#pgen.1002843.s001" target="_blank">Supporting Information S1</a>).</p>d<p>Non-European ancestry.</p>f<p>Previously reported by our group <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002843#pgen.1002843-Costain1" target="_blank">[21]</a>.</p>g<p>Figure 3 in <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002843#pgen.1002843.s001" target="_blank">Supporting Information S1</a>.