Figure 7.

Schematic representation of the proximal 16p11.2 region based on the March 2006 freeze of the reference human genome sequence (NCBI build 36.1) and summary of genomic structure analyses. (a) Genes within this region are represented by grey bars, drawn to scale. (b) There are two major low copy repeat (LCR) families in this region. The blue arrows, termed 147A and 147B, represent the two ~147 kb LCRs. They are in direct orientation and share 99.6% identity. The red arrows, termed 72A, 72B, and 72C, represent the three ~72 kb LCRs. They are all in direct orientation and share ~98.6% identity. (c) Structural variation in this region based on fosmid sequencing data from Kidd et al²⁵ Fos1, Fos2, and Fos3 represent three groups of discordant fosmids, whose mapping is too large relative to the reference genome. The black bars at the ends indicate mapping positions of sequenced fosmid ends in the reference genome. The exact sites of structural variations are unknown because most of these fosmids are only sequenced at the ends. ABC12-J13 represents the deletion structural variation found in the fosmid ABC12-46789100J13. The green bar indicates the region deleted from this fosmid relative to the reference genome.