I got a large table with genomic coordinates of CNV found in our cohort:
CNV
chr1:146458850-148003653
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,
Found the answer, hg19 version for the position of a chromosome band found in this file: http://hgdownload.cse.ucsc.edu/goldenPath/hg19/database/cytoBand.txt.gz
OMIM info for hg19 data from NCBI: ftp://ftp.ncbi.nlm.nih.gov//genomes/H_sapiens/ARCHIVE/ANNOTATION_RELEASE.105/GFF/ref_GRCh37.p13_top_level.gff3.gz