4d9c385e230b4cc8bd55815aa7ba37dea97d4c0a max Mon Apr 20 08:49:42 2026 -0700 abelSv: new track for CCDG 17,795 structural variants (hg38) Add site-frequency track for the Abel et al. 2020 Nature SV callset (PMID 32460305): 737,998 SVs from 17,795 deeply sequenced genomes. Includes the B38 native callset (14,623 samples) and B37 lifted to hg38 (8,417 samples). Track is colored by SV type (DEL/DUP/INV/MEI/BND) with filters for type, callset, filter status, AC, AF, SV length, and MSQ. BND secondary mate records are suppressed so translocation pairs appear only once. refs #36258 diff --git src/hg/makeDb/scripts/abelSv/abelSv.as src/hg/makeDb/scripts/abelSv/abelSv.as new file mode 100644 index 00000000000..60f057c25a2 --- /dev/null +++ src/hg/makeDb/scripts/abelSv/abelSv.as @@ -0,0 +1,41 @@ +table abelSv +"Structural variants from Abel et al. 2020 (CCDG, 17,795 human genomes)" + ( + string chrom; "Chromosome" + uint chromStart; "Start position" + uint chromEnd; "End position" + string name; "Variant ID" + uint score; "Score (0-1000), higher AF is higher" + char[1] strand; "Strand (. for most SVs)" + uint thickStart; "Thick start (same as chromStart)" + uint thickEnd; "Thick end (same as chromEnd)" + uint itemRgb; "RGB color based on SV type" + string svType; "SV Type|DEL=deletion, DUP=duplication, INV=inversion, MEI=mobile element insertion, BND=breakend/translocation" + int svLength; "SV Length (bp)|Difference in length between REF and ALT alleles; -1 for BND" + string callset; "Source callset|B38=native GRCh38 calls (14,623 samples), B37lift=lifted from GRCh37 (8,417 samples)" + string filter; "Filter status|PASS (high confidence) or LOW (low confidence)" + int ac; "Allele Count (AC)|Total alternate-allele count across all samples" + int an; "Allele Number (AN)|Total called alleles across all samples" + float af; "Allele Frequency (AF)|AC/AN" + float msq; "Mean Sample Quality (MSQ)|Mean GQ across positively genotyped samples" + int nSamp; "Samples with non-reference genotype (NSAMP)" + int nFam; "Families with non-reference genotype (NFAM)" + string mateChrom; "Mate chromosome|For BND only; translocation partner" + int matePos; "Mate position|For BND only; -1 otherwise" + int acAfr; "AC - African (AFR)" + int anAfr; "AN - African (AFR)" + int acAmr; "AC - Latino/Admixed-American (AMR)" + int anAmr; "AN - Latino/Admixed-American (AMR)" + int acNfe; "AC - Non-Finnish European (NFE)" + int anNfe; "AN - Non-Finnish European (NFE)" + int acFe; "AC - Finnish European (FE)" + int anFe; "AN - Finnish European (FE)" + int acEas; "AC - East-Asian (EAS)" + int anEas; "AN - East-Asian (EAS)" + int acSas; "AC - South-Asian (SAS)" + int anSas; "AN - South-Asian (SAS)" + int acPi; "AC - Pacific Islander (PI)" + int anPi; "AN - Pacific Islander (PI)" + int acOther; "AC - Other" + int anOther; "AN - Other" + )