3e1960b35a07377b46bd83b8fd04387f182c6bd6 abenetpa Fri May 15 10:52:51 2020 -0700 added three description pages for dbVar tracks refs #25424 diff --git src/hg/makeDb/trackDb/human/dbVarConflict.html src/hg/makeDb/trackDb/human/dbVarConflict.html new file mode 100644 index 0000000..917063d --- /dev/null +++ src/hg/makeDb/trackDb/human/dbVarConflict.html @@ -0,0 +1,66 @@ +

Description

+The track NCBI dbVar Curated Common SVs: Conflicts with Pathogenic highlights loci where +common copy number variants from +nstd186 (NCBI Curated +Common Structural Variants) overlap with structural Variants with clinical assertions, +submitted to ClinVar by external labs (Clinical Structural +Variants - nstd102). +

+ +

+Overlap in the track refers to reciprocal overlap between variants in the common +(NCBI Curated Common Structural Variants) versus clinical (ClinVar Long Variants) +tracks. Reciprocal overlap values can be anywhere from 10% to 100%. +

+ +

+For more information on the number of variant calls and latest statistics for nstd186 see +Summary of nstd186 +(NCBI Curated Common Structural Variants). +

+ +

Display Conventions and Configuration

+Items in all subtracks follow the same conventions: items are shaded according to variant type. +Red for copy number loss or deletion, blue +for copy number gain or duplication and violet for copy number variation. +Mouseover on items indicates Allele Frequencies (AF). +

+ +

+All tracks can be filtered according to the variant lenth and type of variant. The +variant overlap filter defines four bins within that range from which the user can choose. +

+ + +

Data Acces

+The raw data can be explored interactively with the +Table Browser, or the +Data Integrator. For automated analysis, +the data may be queried from our +REST API. +

+ +

+The data can also be found directly from the dbVar nstd186 +data access. +For questions about dbVar track data, please contact dbvar@ncbi.nlm.nih.gov. +

+ +

Credits

+Thanks to the dbVAR team at NCBI, especially Timothy Hefferon for technical coordination and consultation, +and to Christopher Lee, Anna Benet-Pages, and Maximilian Haeussler of the Genome Browser team for +engineering the track display. +

+ +

References

+

+Lappalainen I, Lopez J, Skipper L, Hefferon T, Spalding JD, Garner J, Chen C, Maguire M, Corbett M, +Zhou G et al. + +DbVar and DGVa: public archives for genomic structural variation. +Nucleic Acids Res. 2013 Jan;41(Database issue):D936-41. +PMID: 23193291; PMC: PMC3531204 +

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