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Fig. 5 | Molecular Cytogenetics

Fig. 5

From: De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication

Fig. 5

Bioinformatics analysis. a Index case and the deleted region at position: chr 21:15412676-48090317. b DECIPHER CNVs filter as follows: Loss only—pathogenic, Likely pathogenic, all sizes, squish; ISCA filter: Loss only—pathogenic, squish. c NCBI dbVar showing both gain and loss of pathogenic CNVs (Note: likely pathogenic is the same as pathogenic CNVs—see variant summary counts for nstd37 in dbVar)

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