Skip to main content

Table 3 Number of structural variants (SVs) longer than 100 bp called by HGSVC and falling either within or outside the biased regions identified by biastools scan. An SV was called as within the region of it overlapped any position within 100 nt of the extends of the SV. The biased regions consisted of 114,845 total segments, adding to \(4.1\%\) of the length of the GRCh38 primary assembly

From: Measuring, visualizing, and diagnosing reference bias with biastools

 

SV number

Inside bias region

Outside bias region

Insertion

9709

6183 (64%)

3526 (36%)

Deletion

5521

2690 (49%)

2831 (51%)

Total

15,230

8873 (58%)

6357 (42%)