Fig. 1: UCSC genome browser view of the 16p11.2 BP4-BP5 region.
From: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
The GENCODE Genes (protein-coding genes, version 38) and Segmental Dups tracks are shown (genome assembly hg38). The single-copy region (~600 kbp in size, gray background) is present in n = 2 copies per diploid genome in euploid individuals, n = 1 copy in deletion carriers, and n = 3 copies in duplication carriers. Among the 30 protein-coding genes that map to this interval, SPN and CORO1A have known roles in leukocyte biology (underlined in orange). In the flanking segmental duplication clusters (yellow background), 10 protein-coding genes map and include paralogous copies of NPIPB, BOLA2-SMG1P, BOLA2, SLX1, and SULT1A. A high-identity duplication pair (highlighted by blue rectangles) generates the 16p11.2 BP4-BP5 CNV through non-allelic homologous recombination. The copy-number variant BOLA2 duplicon (range: 3–8 copies per diploid genome) is marked by a green rectangle and contains BOLA2/2B, SLX1A/B, and SULT1A3/4 genes. The scale bar corresponds to 500 kb.
