TBX1 and 22q11.2 deletion syndrome: Some well-known CNVs found in characterized clinical syndromes are del22q11, known as Digeorge syndrome and including a TBX1 haploinsufficiency [25]; del8p23, including TF GATA4 haploinsufficiency [26], etc. Additionally, Genome-Wide Association Studies (GWASs) on CHD patients have identified single-nucleotide polymorphisms (SNPs) associated with CHDs [27].