Genomic NGS Tool
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Genome Variant Format (GVF)

We are also able to process data provided in GVF version 1.05 or 1.06.

The first eight columns are as per the GVF standard and represent:

      Chromosome

      Source            (unused)

      *Sequence Ontology type

             *The following Sequence Ontology types are recognized by this tool:

                  SNV, MNP, complex_substitution, insertion, inversion, deletion, indel, copy_number_variation, gap

      Start location

      End location

      Score (unused)

      Strand

      Phase (unused)

The last column is a series of value/type pairs. 

      The following are currently recognized by the tool and itemized for i2b2:  Variant_feature, Gene and Genotype.

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