A SNP Resource for Human Chromosome 22: Extracting Dense Clusters of SNPs From the Genomic Sequence

Table 1.

Polymorphism Discovery

% of total number of candidate SNPs
Number of overlaps looked at 460
Size of overlaps (bp) 15,241,466
Number of candidates detected: 12,267
Number of single bp substitutions 10,051 81.94%
Number of single bp insertions/deletions 1,334 10.87%
Number of insertions/deletions >1 bp 846 6.90%
Number of single bp sub/indel 19 0.15%
Number of sub/indel >1 bp 17 0.14%
  • Categories of potential variations found in the overlap sequences. Some variations involving adjacent nucleotides are complex and it is difficult to say which nucleotide has been inserted, deleted, or substituted. Therefore, we grouped some variants together as shown.

  • These are situations where the variation involves 2 bp in one sequence and 1 bp in another—one nucleotide appears to be substituted and the other inserted/deleted, for example, CAT–CTCT.

  • These are situations where the variation involves >2 bp in one sequence and a different number of base pairs in the other—the different nucleotides appear to be either substituted or inserted/deleted, for example, CATGTGT–CCCT.

This Article

  1. Genome Res. 11: 170-178

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