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. 2013 Jun 27;5(6):58. doi: 10.1186/gm462

Table 1.

Summary of variations in genome sequences of eight Caucasian subjects, with data from two previously reported studies[27,40].

Sample ID Total number of variants (>q20) Coding variantsa

SNP Indel SV Number of SNPs Indel SV

Synonymous (rare homoz) Missense (rare homoz) Nonsense Splice overlap FS NFS Overlapb
CHD-1 3,722.234 641,792 4197 11,887 (18) 11,434 (29) 64 76 303 299 125 41
CHD-2 3,701.558 639,005 4739 11,842 (11) 11,708 (33) 60 81 334 290 118 37
CHD-3 3,691.270 632,544 4033 11,912 (9) 11,488 (31) 65 71 279 304 116 37
CHD-4 3,691.337 633,475 4114 11.757 (9) 11,457 (25) 56 90 317 280 106 49
CHD-5 3,734.820 645,032 3977 11.929 (9) 11,745 (35) 62 90 343 307 123 43
CHD-6 3,650.690 602,744 3916 11.560 (12) 11,285 (37) 60 80 342 280 112 32
CHD-7 3,643.046 597,363 4011 11.814 (17) 11,480 (41) 61 85 289 287 109 31
CHD-8 3,647.944 590,064 3828 11.619 (9) 11,255 (18) 54 76 311 281 95 38
Pelak et al. [28] 3,473.639 609,795 805 (CNVs) - 11069 117 99 479 898 - -
Shen et al. [40] 3,307,678 421,088 - 9,612 9,082 87 - 217 164 - -

Abbreviations: CNV: copy number variant; FS: frameshift; NFS: non-frameshift; SV: structural variant.

aThe coding variants were classified based on Gencode version 7.

bOverlap: located within 2 nucleotides of the exon-intron boundary.