ftp://ftp.ebi.ac.uk/pub/databases/dgva/nstd40_Sharp_et_al_2006/gvf/nstd40_Sharp_et_al_2006.2017-06-21.GRCh37.Submitted.gvf please describe me above the link.this link is taken from omim.
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Hi, Is this not a duplicated question?
That is an entry with entries from the database of genomic variants (DGV). The DGV... you can think of it as the dbSNP equivalent for copy number variation (CNV), i.e., structural variants. Copy number variants / structural variants are regarded as 'common' variants in the genome, which may or may not increase risk of disease (much the same as SNPs).
The particular entry relates to a study by Sharp et al. Note the header of the file:
Description=Based on the duplication architecture of the genome, we investigated 130 regions that we hypothesized as candidates for previously undescribed genomic disorders. We tested 290 individuals with mental retardation by BAC array comparative genomic hybridization and identified 16 pathogenic rearrangements, including de novo microdeletions of 17q21.31 found in four individuals.
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http://www.ensembl.org/Homo_sapiens/Gene/StructuralVariation_Gene?db=core;g=ENSG00000165092;r=9:72900662-73080442;t=ENST00000297785 check the source study in the structural variants table.the previous link is same as above.
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