77a05dfd9799bd98b69d9d3f1604b19d8e3591b5 angie Fri Nov 1 14:59:11 2019 -0700 typo fix: 152 -> 153, refs #23283 diff --git src/hg/makeDb/trackDb/human/dbSnp153Composite.html src/hg/makeDb/trackDb/human/dbSnp153Composite.html index 7e84654..c7e1cb1 100644 --- src/hg/makeDb/trackDb/human/dbSnp153Composite.html +++ src/hg/makeDb/trackDb/human/dbSnp153Composite.html @@ -172,31 +172,31 @@
  • assorted features and anomalies noted by UCSC during processing of dbSNP's data.
  • Interesting and anomalous conditions noted by UCSC

    While processing the information downloaded from dbSNP, UCSC annotates some properties of interest. These are noted on the item details page, and may be useful to include or exclude affected variants. Some are purely informational:

    - + @@ -257,31 +257,31 @@ in some, but not all, projects reporting frequencies, or has no frequency data.
    keyword in data file (dbSnp152.bb)
    keyword in data file (dbSnp153.bb) # in hg19# in hg38description
    clinvar 454656 453954 Variant is in ClinVar.
    clinvarBenign 143844 143696 Variant is in ClinVar with clinical significance of benign and/or likely benign.
    clinvarConflicting
    revStrand 3813390 4512600 The orientation of the currently viewed reference genome sequence is different from the orientation of dbSNP's preferred top-level assembly sequence; alleles are presented on the forward strand of the currently viewed reference sequence.

    while others may indicate that the reference genome contains a rare variant or sequencing issue:

    - + @@ -298,31 +298,31 @@ reporting frequencies.
    keyword in data file (dbSnp152.bb)
    keyword in data file (dbSnp153.bb) # in hg19# in hg38description
    refIsAmbiguous 101 111 The reference genome allele contains an IUPAC ambiguous base (e.g. 'R' for 'A or G', or 'N' for 'any base').
    refIsMinor 16032028 16277729 The reference genome allele is not the major allele in at least one project.
    refMismatch 4 33 The reference genome allele reported by dbSNP differs from the GenBank assembly sequence. This is very rare and in all cases observed so far, the GenBank assembly has an 'N' while the RefSeq assembly used by dbSNP has a less ambiguous character such as 'R'.

    and others may indicate an anomaly or problem with the variant data:

    - +
    keyword in data file (dbSnp152.bb)
    keyword in data file (dbSnp153.bb) # in hg19# in hg38description
    altIsAmbiguous 10747 10873 At least one alternate allele contains an IUPAC ambiguous base (e.g. 'R' for 'A or G'). For alleles containing more than one ambiguous base, this may create a combinatoric explosion of possible alleles.
    classMismatch 5701 5864 Variation class/type is inconsistent with alleles mapped to this genome assembly.