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. 2012 Aug 22;21(4):404–409. doi: 10.1038/ejhg.2012.188

Table 2. Summary information for CNVRs identified in group 1.

    Heritable Linked  
  All CNVRs (P1.702E-5) (P0.05) (P1.702E-5) Novel
Total 2937 2776 (94.5%) 920 (31.3%) 431 (14.7%) 727 (24.8%)
Deletion 1453 (49.5%) 1373 505 235 403
Duplication 464 (15.8%) 437 178 68 110
Complex 131 (4.5%) 128 36 21 1
Overlapping Variants 48 (1.6%) 45 16 7 4
Unknown 841 (28.6%) 793 185 100 209
Within 50 kb of disease SNP from NHGRI 409 (13.9%) 390 109 44 95
Novel 727 (24.8%) 670 146 32
1 Pedigree 1201 (40.9%) 1115 273 61 399
>1 Pedigree 1736 (59.1%) 1661 647 370 328

Abbreviation: CNVR, copy number variable region.