Data Sources

The dbDNV is based on human reference genome and reference transcripts from NCBI build 36.3 published on March 26, 2008 []. We have analyzed 37,312 reference transcripts (24,764 NMs and 12,548 XMs).

The single nucleotide polymorphism (SNP) records are downloaded from NCBI dbSNP build 130 released on April 30, 2009 []. The number of human reference SNP clusters (rs number) in build 130 is 17,804,034, and about 99% of them (17,541,631) are mapped to the reference genome, according to the b130_SNPContigLoc_36_3 table.

Getting Started

The Statistics

SNP density decreases in more conserved regions, such as exons. This may reflect that functional regions are more conserved under the pressure of selection during evolution. Thus, they are not prone to maintaining diversity.

The densities of both exonic and intronic SNPs in DGL are higher than that in solitary genes, especially the intronic one. The augmentation of SNP records
in DGL suggests that SNPs may be inflated by paralogous variants.

The Distribution of DNV and DNV-coupled SNPs


Counts of SNPs, DNVs and DNV-coupled SNPs in Duplicated Genes