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. 2016 Jun 15;5(3):129–140. doi: 10.1055/s-0036-1584361

Fig. 1.

Fig. 1

A 1,478 Mb duplication (black rectangle) was found within the chromosome 7q11.23 band at genomic coordinates 72,664,088–74,142,215 with high resolution microarray analysis (NCBI build 37, Feb 2009, hg 19). The figure shows the duplication via both copy number pattern and single nucleotide probe allele peak patterns. The copy number probes indicating the presence of a duplication are noted above the baseline probes (representing a normal copy number of 2). The single nucleotide probes are present in two separate rows instead of a single row indicating the duplicated region. Genes fully included within this duplication were NSUN5, TRIM50, FKBP6, FZD9, BAZ1B, BCL7B, TBL2, MLXIPL, VPS37D, DNAJC30, WBSCR22, STX1A, MIR4284, ABHDD11-AS1, ABHD11, CLDN3, CLDN4, WBSCR27, WBSCR28, ELN, LIMK1, EIF4H, MIR590, LAT2, RFC2, CLIP2, and GTF2IRD1. Genes partially included within this duplication were GTF2IRD2P1 and GTF2I.