svclassify: a method to establish benchmark structural variant calls

BMC Genomics

Table 2 Description of SV validated/assembled sets from Coriell DNA sample NA12878

Source	# of SVs	# of unique SVs	Size distribution
Personalis deletions	2306	2292	50 to 158654 bps
Personalis validated deletions	39	39	49 to 9163 bps
Personalis non-validated deletions	5	5	52 to 7557 bps
1000 Genomes deletions [13]	2685	1825	49 to 212899 bps
Deduplicated deletions	3082	3082	49 to 158654 bps
Spiral Genetics insertions	70	70	207 to 3865 bps
Random regions	4000	4000	50 to 997527 bps
Random regions (size distribution matching to Personalis)	2306	2306	50 to 158654 bps
Long interspersed nuclear elements	497	497	12 to 6401 bps
Long terminal repeat elements	498	498	11 to 7511 bps
Short interspersed nuclear elements	496	496	36 to 335 bps

ISSN: 1471-2164