diff --git a/docs/htdocs/info/docs/tools/vep/script/index.html b/docs/htdocs/info/docs/tools/vep/script/index.html index 3ff40c28d..589251956 100644 --- a/docs/htdocs/info/docs/tools/vep/script/index.html +++ b/docs/htdocs/info/docs/tools/vep/script/index.html @@ -94,8 +94,10 @@
END
or SVLEN
are present, the proportion of any overlapping feature covered by the variant is calculatedSVTYPE
in older VCF files) defines the type of structural variant; some types of structural variants are tested for specific consequences:Structural variant type | +Abbreviation | +Specific consequences | +
---|---|---|
Insertion | +INS | +Feature elongation | +
Deletion | +DEL | +Feature truncation | +
Duplication | +DUP | +Feature amplification/elongation | +
Inversion | +INV | +Not tested for any specific consequence | +
Copy number variation | +CNV | +Feature amplification/elongation (if copy number is 2) or truncation (if copy number is 0) | +
Breakpoint variant | +BND | +Feature truncation | +
chr4
and NC_000004.12
)
+ 1 7936271 . N N[12:58877476[,N[X:10932343[
, it will report the consequences for each of the 3 breakends:
+ N[12:58877476[
: consequences for the first alternative breakend near chr12:58877476
+ N[X:10932343[
: consequences for the second alternative breakend near chrX:10932343
+ N.
: consequences for the reference breakend near chr1:7936271 (represented as detailed in the VCF 4.4 specification, section 5.4.9: Single breakends)
+ bp_overlap
and percentage_overlap
are used in JSON format and OverlapBP
and OverlapPC
in other formats.
+
+
+ VEP can also call consequences on structural variants using the - following input formats:
- - - To recognise a variant as a structural variant, the allele string
- (or SVTYPE
in the INFO column of the VCF format) must be set
- to one of the currently supported values:
ALT
- column and need to meet the
- HTS specifications,
- such as A[22:22893780[,A[X:10932343[.
- Examples of structural variants encoded in VCF format:
- --#CHROM POS ID REF ALT QUAL FILTER INFO -1 160283 dup . <DUP> . . SVTYPE=DUP;END=471362 -1 1385015 del . <DEL> . . SVTYPE=DEL;END=1387562 -1 7936271 bnd N N[12:58877476[ . . SVTYPE=BND- -
See the VCF - definition document for more detail on how to describe - structural variants in VCF format.
- -VEP can also call consequences on structural variants using the + following input formats:
+ + + To recognise a variant as a structural variant, the allele string
+ (or SVTYPE
in the INFO column of the VCF format) must be set
+ to one of the currently supported values:
INFO
fields describing the tandem repeat, such as RUS
and RN
– check VCF 4.4 specification, section 5.7
+ CIRUC
and CIRB
INFO
fields are ignored when calculating alternative alleles in tandem repeats
+ ALT
+ column and need to meet the
+ HTS specifications,
+ such as TG[12:58877476[
+ ALT
, such as T. and .GALT
, such as A[22:22893780[,A[X:10932343[More information on how VEP processes structural variants can be found here.
+ ++#CHROM POS ID REF ALT QUAL FILTER INFO +1 160283 dup . <DUP> . . SVTYPE=DUP;END=471362 +1 1385015 del . <DEL> . . SVTYPE=DEL;END=1387562 +1 7936271 bnd N N[12:58877476[ . . SVTYPE=BND+ +
See the VCF + definition document for more detail on how to describe + structural variants in VCF format.
+