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

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, de novo or inherited (where known); # of genes, number of known genes overlapped by a CNV as annotated in the Database of Genomic Variants (http://projects.tcag.ca/variation/; 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; http://www.omim.org/) and model organism (e.g., Mouse Genome Informatics; http://www.informatics.jax.org/) databases presented in Table 4 in Supporting Information S1.
aFigure 2 in Supporting Information S1.
bTable 3.
cNeighbor of a top disease gene (GATA4, NKX2-5, TBX5), as identified in the pathway analysis (Table 11 in Supporting Information S1).
dNon-European ancestry.
fPreviously reported by our group [21].
gFigure 3 in Supporting Information S1.