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  • PeteH
    Member
    • Jun 2010
    • 64

    #1

    What does "-" allele mean in dbSNP?

    What does the "-" observed allele mean in dbSNP? I am using dbSNP128 for the mouse mm9 reference genome and there are several thousand such SNPs, for example rs8253350 (http://genome.ucsc.edu/cgi-bin/hgc?h...28&i=rs8253350). I have been unable to find an explanation on the UCSC or dbSNP websites.
    Many thanks.
    Last edited by PeteH; 07-21-2011, 02:50 AM.
  • gringer
    David Eccles (gringer)
    • May 2011
    • 845

    #2
    Well, the class for the "SNP" you pointed at was insertion, so I'm guessing that the '-' means a deletion (or a non-insertion). It's somewhat common notation for skipped bases in alignment files.

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    • PeteH
      Member
      • Jun 2010
      • 64

      #3
      Thanks for your reply, gringer. I thought it likely meant a deletion but I was struggling to find clear documentation that said so. The SNP I linked to is listed as:
      Observed: -/T
      Reference allele: -

      To clarify, does this mean the reference sequence contains a deletion at this site and that the T allele was been observed in other samples? I find it rather confusing dealing with INDELs in the reference; to me it is much clearer to visualise INDELs in a sample compared against the reference.
      Last edited by PeteH; 07-21-2011, 04:50 AM.

      Comment

      • gringer
        David Eccles (gringer)
        • May 2011
        • 845

        #4
        To clarify, does this mean the reference sequence contains a deletion at this site and that the T allele has been observed in other samples?
        Yes, that would be my interpretation of those statistics. Other dissenting (or corroborating) views are welcome, though.

        Comment

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