ed2cdfc5f35ab5b5636cfacb8777ea1839e05dc2 abenetpa Tue Jun 9 15:47:40 2020 -0700 corrected red color sentence refs #24817 diff --git src/hg/makeDb/trackDb/human/clinGenSv.html src/hg/makeDb/trackDb/human/clinGenSv.html index 0d85e3f..a8a32f9 100644 --- src/hg/makeDb/trackDb/human/clinGenSv.html +++ src/hg/makeDb/trackDb/human/clinGenSv.html @@ -26,31 +26,31 @@ </div> <p> The <b>ClinGen Structural Variants</b> dataset displays curated <b>copy number variants (CNVs)</b> with <em>sufficient evidence supporting (pathogenic) or refuting (benign) dosage sensitivity</em> as a mechanism for disease from the dbVar study <a target="_blank" href="https://www.ncbi.nlm.nih.gov/dbvar/studies/nstd45/">nstd45</a> (ClinGen Curated Dosage Sensitivity Map-obsoleted). Dosage sensitivity has been reviewed in an evidence-based manner by the ClinGen Structural Variation Working Group as described in Riggs <em>et al.</em> 2012. See Variant Summary counts for nstd45 in <a target="_blank" href="https://www.ncbi.nlm.nih.gov/dbvar/content/var_summary/#nstd45">dbVar Variant Summary</a>. </p> <h2>Display Conventions and Configuration</h2> <p> -Items are shaded according to variant type, <b><font color="red">red for CNV loss<font></b>, +Items are shaded according to variant type, <b><font color="red">red for CNV loss</font></b>, <b><font color="blue">blue for CNV gain</font></b>. Mouseover on items indicates affected protein-coding genes, size of the variant, variant type (gain, loss), and associated phenotype. When more than 2 genes are affected by a variant, the full list can be obtained by clicking on the item and reading the details page. </p> <p> All tracks can be filtered according to the size of the variant, variant type, and clinical significance. </p> <h2>Data Access</h2> <p> The raw data can be explored interactively with the <a href="../cgi-bin/hgTables">Table Browser</a>, or the <a href="../cgi-bin/hgIntegrator">Data Integrator</a>. For automated analysis, the data may be queried from our REST API. Please refer to our