Download file example [#1]

Input variants

CNVscore's prediction:

To refresh the app after each row selection, you need to click on the button "Run".

Comparison CNV size with other CNVs databases

GO term annotation

Gene Ontology


Pathway analysis


Gene-disease association


Overlap with CNV Syndromes

Overlap with pathogenic/likely pathogenic CNVs (DECIPHER & ClinVar)

Overlap with non-pathogenic CNVs

Overlap with disease-associated genes from different databases

Overlap with disease genes

Disease evidence


Overlap with disease & non-disease genes


Disease-associated variants

De novo variants (denovo-db)

Intersection of disease target-genes databases (from overlapping regulatory elements)

Disease target-genes from regulatory elements


Disease evidence


Disease & non-disease target genes from overlapping regulatory elements


Overlapping enhancers


Conservation - Phast100way histogram

Conservation - Phast46way placental histogram

Conservation - Phast46way primates histogram

Overlapping micro-RNAs (miRNAs)

Overlapping Transcription factors (TFs)

Overlapping long noncoding RNAs (lncRNAs)

Overlapping Topologically Associating Domains (TADs)

Protein interaction network

Filter by gene

Color legend

Nº of protein-protein interactions

Input variants

Filter by size

Filter by pathogenicity score

Exclude benign CNVs

Filter by number of genes

List of CNVs

Filter options:

Display by:

RNA Expression (GTEx)


Reference database:

Tissue-specific enrichment analysis (TSEA)

Filter options:

Filter by gene:
Filter by tissue:

Protein Expression (Human Protein Atlas)

Top 10 most frequent HP terms (gene annotation)

Top 10 most frequent anatomical entities (gene annotation)

Indicate here phenotype terms of the patient