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Copy number variation annotation software tools | Whole-genome sequencing data analysis

Data analysis of CNVs is an important downstream task to mine the biological meaning of resultant CNV lists from large scale genomic experiments. The analysis of such high complexity and large volume data sets is challenging and requires support…
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SCAN
Web

SCAN SNP and CNV Annotation

A large-scale database of genetics and genomics data associated to a…

A large-scale database of genetics and genomics data associated to a web-interface and a set of methods and algorithms that can be used for mining the data in it. The database contains two categories…

PennCNV
Desktop

PennCNV

A free software tool for copy number variation (CNV) detection from SNP…

A free software tool for copy number variation (CNV) detection from SNP genotyping arrays. PennCNV can handle signal intensity data from Illumina and Affymetrix arrays. With appropriate preparation…

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AneuFinder
Desktop

AneuFinder

Allows annotation of copy number changes in a fully automated fashion and…

Allows annotation of copy number changes in a fully automated fashion and quantification of copy number variations (CNV) heterogeneity between cells. AneuFinder quantifies aneuploidy in primary…

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wANNOVAR
Web

wANNOVAR

ANNOVAR is a rapid, efficient tool to annotate functional consequences of…

ANNOVAR is a rapid, efficient tool to annotate functional consequences of genetic variation from high-throughput sequencing data. wANNOVAR provides easy and intuitive web-based access to the most…

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AnnTools
Desktop

AnnTools

A versatile bioinformatics application designed for comprehensive annotation of…

A versatile bioinformatics application designed for comprehensive annotation of a full spectrum of human genome variation: novel and known single-nucleotide substitutions (SNP/SNV), short…

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DeAnnCNV
Web

DeAnnCNV Detection and Annotation of Copy Number Variations from WES data

An online tool designed for precise detection and annotation of copy number…

An online tool designed for precise detection and annotation of copy number variations (CNVs) from whole-exome sequencing (WES) data. Upon submitting the file generated from WES data by an in-house…

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SG-ADVISER CNV
Web

SG-ADVISER CNV Scripps Genome ADVISER CNV

Aims to fill the gap between copy number variant detection and interpretation…

Aims to fill the gap between copy number variant detection and interpretation by performing in-depth annotations and functional predictions for copy number variants. SG-ADVISER CNV is designed to…

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CNView
Desktop

CNView

A software tool for normalized visualization, statistical scoring, and…

A software tool for normalized visualization, statistical scoring, and annotation of CNVs from population-scale whole-genome sequencing (WGS) datasets. CNView has six sequential steps: (1) matrix…

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CNVannotator
Web

CNVannotator

A web server that accepts an input set of human genomic positions in a…

A web server that accepts an input set of human genomic positions in a user-friendly tabular format. CNVannotator can perform genomic overlaps of the input coordinates using various functional…

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