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Table 4 Genomic context of ClinVar (likely) pathogenic SNVs

From: Medical implications of technical accuracy in genome sequencing

  n %
Total likely pathogenic or pathogenic SNVs 15,735  
Likely pathogenic or pathogenic SNVs in high-confidence regions 12,138 77.14
Likely pathogenic or pathogenic SNVs that start a 35 bp unique sequencea 15,289 97.17
Likely pathogenic or pathogenic SNVs that start a 100 bp alignable sequenceb 15,438 98.11
Total likely pathogenic or pathogenic SNVs with > = level 2 ClinVar review status [32] 1,212  
Likely pathogenic or pathogenic SNVs with > = level 2 ClinVar review status in high-confidence regions 998 82.34
Likely pathogenic or pathogenic SNVs with > = level 2 ClinVar review status that start a 35 bp unique sequencea 1,190 98.18
Likely pathogenic or pathogenic SNVs with > = level 2 ClinVar review status that start a 100 bp alignable sequenceb 1,195 98.60
  1. aThe 35 bp sequence that starts at the SNV’s genomic loci is only present once in the whole reference genome (hg19)
  2. bThe 100 bp sequence (with up to two mismatches) that starts at the SNV’s genomic loci is only present once in the whole reference genome (hg19)