Table 2 Validated insertions and deletions (>5 kb) detected by single-molecule maps and genome maps
Sample/SV CategoryInsertionDeletion
By samples
NA12878769522
NA12891743496
NA12892748456
By novelty based on 1000 Genomes Project pilot and phase 1 insertions and deletions >5 kb
Known39125
Novel870536
By Mendelian inheritance
Mendelian879631
Non-Mendelian44
No calla2626
 Total909661
  • a Unable to generate a call for Mendelian inheritance due to insufficient data to determine an insertion/deletion call to any of the samples.