GVO: Genome Variation Ontology for semantic representation of the genome variation
Genome Variation ontology
2021-11-18
BND
Breakend
CNG
Copy number gain
CNL
Copy number loss
CNV
Copy number variation
CS
Complex substitution
Cpx
Complex structual variation
Complex structural alteration
Ctx
Translocation
dDUP
Dispersed duplication
dDUP-iDEL
Dispersed duplication with deletion at insertion site
Del
Deletion
delAlu
Alu deletion
delHERV
HERV deletion
delINV
Complex inversion with 5' flanking deletion
delINVdel
Complex inversion with 5' and 3' flanking deletions
delINVdup
Complex inversion with 5' flanking deletion and 3' flanking duplication
delLINE1
LINE1 deletion
delME
Mobile element deletion
delSVA
SVA deletion
Dup
Duplication
dupINV
Complex inversion with 5' flanking duplication
dupINVdel
Complex inversion with 5' flanking duplication and 3' flanking deletion
dupINVdup
Complex inversion with 5' and 3' flanking duplications
Indel
Sequence alteration which included an insertion and a deletion
Ins
Insertion
insAlu
Alu insertion
insHERV
HERV insertion
INS-iDEL
Insertion with deletion at insertion site
insLINE1
LINE1 insertion
insME
Mobile element insertion
insNS
Novel sequence insertion
insSVA
SVA insertion
InsUnknown
Insertion of unknown sequence
InterBnd
Interchromosomal breakpoint
InterCtx
Interchromosomal translocation
IntraBnd
Intrachromosomal breakpoint
IntraCtx
Intrachromosomal translocation
Inv
Inversion
INVdel
Complex inversion with 3' flanking deletion
INVdup
Complex inversion with 3' flanking duplication
MCNV
Multiallelic copy number variation
MNV
Multiple nucleotide variant
NSA
No sequence alteration
SA
Sequence alteration
SNV
Single nucleotide variant
STRV
Short tandem repeat variation
TDup
Tandem duplication
TR
Tandem repeat
Variation
Alternative allele
Alternative allele for VCF
Chromosome
Filter
Info
Left most position on the reference path
Position
Position for VCF
Qual
Reference allele
Reference allele for VCF
Right most position on the reference path