types of known diseases caused by genomic variation … · structural-variation-infographic subject...
TRANSCRIPT
SMALL
VARIANTS < 50 BASE PAIRS / VARIANT
> 50 BASE PAIRS / VARIANT
STRUCTURAL
VARIANTS
DELETION
INVERSION
INSERTION
TANDEM DUPLICATION
INTERSPERSED DUPLICATION
TRANSLOCATION
TYPES OF
GENOMIC VARIATION
STRUCTURAL VARIANTS
COMPRISE MORE THAN HALF
OF GENOMIC VARIATION
60%
1 BASE PAIR / VARIANT
1-49 BASE PAIRS / VARIANT
KNOWN DISEASES CAUSED BY
STRUCTURAL VARIANTS
SCHIZOPHRENIADeletion, Duplication
CARNEY COMPLEXDeletion
HEREDITARY BREAST & OVARIAN CANCERDeletion, Insertion
POOR DRUG METABOLISMDuplication
CHRONIC MYELOID
LEUKEMIATranslocation
NEUROFIBROMATOSISInsertion
SNV
INDELS
www.pacb.com/sv
+ 1,000'sMORE KNOWN…
…AND MANY TO
BE DISCOVERED
> 20,000STRUCTURAL
VARIANTS
IN A HUMAN
GENOME
For Research Use Only. Not for use in diagnostic procedures.PN: INF100-091817