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Old 08-19-2018, 06:21 AM   #1
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Location: Israel

Join Date: Jan 2015
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Default ISCN Cytogenetic Nomenclature - from genomic coordinates


I got a large table with genomic coordinates of CNV found in our cohort:

I would like to add the following data to the table :
International System for Human Cytogenetic Nomenclature(ISCN), cnv size, names of genes /amount of genes in the genomic region, amount of OMIM genes and OMIM description:

CNV ISCN geneName num_genes num_omim_genes omim_num omim_name
chr1:146458850-148003653 1.q.21.1 NEGR1 1 1 613173 NEURONAL GROWTH REGULATOR 1; NEGR1
What is the best program/tool/package for this? Maybe an R package?

Thank you very much,
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