Skip to main content

Advertisement

Table 1 Array CGH detected CNVs

From: Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants

Chromosomal band CNV Start End Genes  
1p12 del 120338195 120404356 NOTCH2 (intragenic, exon 2–4) homolog of Drosophila Notch2, MIM 600275
1q42.3 del 234409418 234422919 GPR137B (intragenic, exon 5) G protein-coupled receptor 137B, MIM 604658
3q26.32q26.33 dup 180445165 180668097 KCNMB3 (5' partial), ZNF639, MFN1, GNB4 potassium large conductance calcium-activated channel, subfamily M beta member 3, MIM 605222; zinc finger protein 639; Mitofusin 1, MIM 608506; Guanine nucleotide-binding protein beta-4, MIM 610863
14q32.11 dup 89942827 90019073 CALM1 (3' partial) Calmodulin 1, MIM 114180
20q13.33 del 59412001 59460188 CDH4 (intronic) cadherin 4 (retinal cadherin), MIM 603006
20q13.33 dup 59597204 59629701 CDH4 (intronic)  
  1. Positions according to hg18.