Source | Extracted information | Reference |
---|---|---|
Gene and functional effect datasets | ||
Gencode V.19 | Gene name (HGNC gene symbol) Gene type Gene IDs (Ensemble) Transcript IDs (Ensemble) Exon counts (Internal to CNVs) UTRs | |
PhastCon | PhastCon element count PhastCon element score | http://hgdownload.soe.ucsc.edu/goldenPath/hg19/database/phastConsElements100way.txt.gz |
Haploinsufficiency index | Haploinsufficiency score | http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1001154 |
Gene intolerance | Gene intolerance score | |
Known CNVs | ||
Sanger high resolution CNVs | Sanger CNV count | http://www.sanger.ac.uk/science/collaboration/copy-number-variation-project |
DGV | DGV CNV count Variant type Variant subtype Pubmed ID | |
Curated high quality DGV | CNVs from 2 stringency levels CNV population frequencies | http://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/pubmed/25645873 |
1000 Genomes CNVs | 1000 Genomes deletion 1000 Genomes insertions | |
Clinically relevant information | ||
OMIM morbid map | OMIM disease Pubmed ID | |
DECIPHER | DECIPHER development disorder genes | |
ClinVar | ClinVar disease HGVS name of the variant |