Please upload a BED file containing up to 10,000 variants
Please provide a 4-column BED file containing SV coordinates (CHROM
, START
,
END
) and SV type ('DEL'
, 'INS'
, 'DUP'
)
in column 4. The CADD-SV framework was built on genome build GRCh38, however you can also
choose to upload NCBI36/hg18 or GRCh37/hg19 based coordinates as well.
CADD-SV automatically performs liftOver to GRCh38 before annotating the variants, while
reporting your submitted coordinates as the SV name (column 5). If you upload variants
for GRCh38, you may use this field in 5-column upload to name your SVs and this name will
be returned in the output files. You may also choose to omit/leave this field empty. An
example for the input file format can be found here.
The maximum accepted file size is set at 2MB. If you try to upload files larger than 2MB, you will receive an error ("Connection reset"). You will be able to retrieve your variants faster, if you upload them in smaller sets. The output provided for download is a gzip-compressed tab-separated text file. Make sure that your browser does not alter the file extension (.tsv.gz) during download; otherwise your operating system will not be able to automatically pick the right programs for opening the output. If you need more variants, we suggest downloading our offline scoring workflow or the sets of pre-scored variants.