Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome

BMC Genomics

Table 1 Copy number differences in 1q21 between the GRCh37 build and the CHM1 assembly

Table 1 describes changes in copy number between the GRCh37 and new CHM1 assemblies. The majority of non-DUF1220 changes were gain in copy, with 8 genes previously under represented in GRCh37. Three NBPF genes are no longer present, although DUF1220 numbers remained close to the same with DUF1220 copies being mostly redistributed among the remaining NBPF genes. This may indicate that the gene loss is an artifact of misassembly rather than true gene copy number differences. Numbers do not include the additional DUF1220 domains and NBPF genes added to the 1p11.2 region as a result of the human-specific 1q21.2 segmental duplication described in the text.

ISSN: 1471-2164