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. Author manuscript; available in PMC: 2021 Sep 8.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2020 Sep 8;184(3):860–868. doi: 10.1002/ajmg.c.31844

FIGURE 3.

FIGURE 3

Known CNVs within a 200 kb region upstream of FOXC1 involving DNA sequences conserved between human and mouse. Figure is a screen capture of the output of Sequence Viewer showing CNVs reported in the dbVar database and location of genes. The locations of the five conserved elements are indicated below with black arrows. Three known CNVs that neighbor several of these conserved elements are circled in orange as examples. CNVs such as esv3843471, reported once in the dbVar database, might be associated with ARS. In contrast, esv3843472, reported more than 160 times, is much less likely to be associated with ARS