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