Bioinformatics and Systems Medicine Laboratory

Region-based CNV annotation:

Providing comprehensive annotations on human copy number variations in the next generation sequencing era.

This type of query can be a set of genomic positions in a tabular format listing the chromosome name with its starting and ending coordinates. Users need to choose what type of analyses will be conducted using the drop-down menu. Generally, users can choose to filter data using common CNVs, annotation with known disease CNVs, overlaps with known genes, published GWAS studies, segmental duplications, et al. Given queries inputted by users, CNVannotator will overlap the input genomic coordinate with all the collected genomic features in our database to search interesting patterns for the inputted CNV regions. The maximum number of CNV regions is 500. Please divide big jobs into several small jobs or contact us directly to arrange your jobs. Users can find a step-by-step guide in Help.

User can choose which type of annotation to be performed below, or do all the analysis by one-stop interface.

In our current release, the genomic coordinates are based on hg19. Please use UCSC LifeOver to convert hg18 coordinates to the hg19 coordinates if necessary.

Use which file source?

Percentage of overlapping region (optional):

Percentage of overlapping region to the queried CNV length:     %
Percentage of overlapping region to the length of annotation:   %

Query by

Paste the genomic positions into this box:

Example: chr1:10001:87113;

Email notification (optional):


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  Last Modified: 2014-4-9