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

From: svclassify: a method to establish benchmark structural variant calls

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