Databases

BANCCO - Banque Nationale de CNV Constitutionnelles

La banque nationale de CNV Constitutionnelles est développée afin de recenser les CNV (Copy Number Variation) issus du diagnostic clinique.

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Progenetix - Cancer Genome Data Resource

An Open Cancer Genomics Resource with Focus on CNV Profiles

The Progenetix database is the largest repository for annotated copy number profiling data in cancer. The website also tracks & analyses cancer genome profiling publications for provenance & content.

Domain Name: progenetix.net
Creation Date: 2000-11-29T18:17:38.000Z
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Other Resources and Information

CNV Annotation Formats

Some Information about CNV Annotation Standards

ISCN

Sine 1963, the International System for Human Cytogenetic Nomenclature (ISCN) has provided standards and guidelines for annotation of human karyotypes and cytogenetic abnormalities.

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CNV File & Storage Formats

VCF

BED files and other columnar segment files

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CNV-related contributions to ontologies

h-CNV Community Members and their Involvement with Classifications and Ontologies

h-CNV community members have been contributors to several ontologies, for the representation of technologies relevant for CNV analysis as well as for the encoding of CNV data.

Ontology of bioscientific data analysis and data management (EDAM)

Experimental Factor Ontology (EFO)

Terms for genomic array types used in CNV detection were added to the existing DNA array concept (Michael Baudis):

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