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 @@
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:
keyword in data file (dbSnp152.bb) | +|||
---|---|---|---|
keyword in data file (dbSnp153.bb) | # in hg19 | # in hg38 | description |
clinvar | 454656 | 453954 | Variant is in ClinVar. |
clinvarBenign | 143844 | 143696 | Variant is in ClinVar with clinical significance of benign and/or likely benign. |
clinvarConflicting | @@ -257,31 +257,31 @@ in some, but not all, projects reporting frequencies, or has no frequency data.|||
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:
keyword in data file (dbSnp152.bb) | +|||
---|---|---|---|
keyword in data file (dbSnp153.bb) | # in hg19 | # in hg38 | description |
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 hg38 | description |
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. |