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. 2001 Jun;11(6):1071–1085. doi: 10.1101/gr.167701

Table 3.

Summary of Human Nuclear Sequence Variation Studies

Authors Year Region La nb Sc kd π








Hey 1997 PDHA1, X chre 1.8 8 4 4 0.0015
Zietkiewicz et al. 1998 Dystrophin, X chr 7.6 250 35 36 0.0013
Nachman et al. 1998 Introns from 7 loci, X chr 11.4 10 20 0.0008
Harris and Hey 1999 PDHA1, X chr 4.2 35 25 11 0.0022
Kaessman et al. 1999 Non coding region, X chr 10.2 69 33 20 0.0005
Jaruzelska et al. 1999a ZFX, X chr 1.1 336 10 11 0.0011
Dorit et al. 1995 ZFY, Y chr 0.7 38 0 1 0
Hammer 1995 YAP region, Y chr 2.6 16 5 5 0.0004
Whitfield et al. 1995 SRY, Y chr 18.3 5 3 4 0.0003
Jaruzelska et al. 1999b ZFY, Y chr 0.7 205 1 2 0.00006
Shen et al. 2000 SMCY, UTY1, DBY, DFFY, Y chr 81 53 98 0.000052
Li and Sadler 1991 49 autosomal loci 75 2 0.0011
Fullerton et al. 1994 β-globin, chr 11 3.1 36 17 17 0.0014
Harding et al. 1997 β-globin, chr 11 2.7 349 35 30 0.0018
Clark et al. 1998 LPL, chr 8 9.7 142 88 88 0.0020
Grimsley et al. 1998 HLA-H pseudogene, chr 6 0.3 34 15 11 0.0196
Rieder et al. 1999 ACE, chr 17 24 22 78 13 0.0009
Halushka et al. 1999 75 genes 190 149 0.0008
Rana et al. 1999 MC1R, chr 16 0.95 242 6 6 0.0020
Fullerton et al. 2000 ApoE, chr 19 5.5 192 22 31 0.0005
This study 2001 psGBA, chr 1 5.4 100 18 25 0.0004

In the cases in which the X or the Y chromosomes were studied, the standardized π (nucleotide diversity) is shown (π values were multiplied by 4/3 or by 4, respectively, to make them comparable to autosomes). 

a

L, length per locus is indicated as number of kilobases sequenced. 

b

n, number of chromosomes. 

c

S, number of segregating sites. 

d

k, number of haplotypes observed. 

e

chr, chromosome. 

f

Nucleotide diversity for fourfold degenerate sites. 

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