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CNV File & Storage Formats

VCF

VCF 4.4 is the most appropriate VCF format to store Structural variants including copy number variants * VCF specification v4.4 PDF * VCF specification v4.3 PDF * VCF specification v4.2 PDF

BED files and other columnar segment files

Schema-defined files and databases

Schema-defined variant annotations can be serialised and stored or transmitted using e.g. the JSON format.

For information about some of the used schemas please see the CNV Annotation Formats page.

last update 2023-07-07 by @tcezard