*Note: The outer circle represents the locations of the SVs on the genome (if there is a segment information, it will also be marked). The inner circle represents the frequencies of corresponding SVs.
Disease-Related SVs
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Disease Category
Main Category
Disease Diagnosis
Genome Coordinate_Hg38
Genome Coordinate_Hg19
Chromosome Band
SV Type
Variant Type
Pathogenicity
ACMG Score (Standard)
Involved Gene
Details
PMID
DOID
OMIM
Queried in DGV database
Queried in Decipher database
Breakpoints
SV Size
Detection Platform
Data Source
Journal
Article Title
Authors
Year
Lab_ID
Patient/Family Detected SV
Formation Mechanism
Gender
Diagnosis Age
Onset Age
Country/Region
Ethnic Group
Main Phenotypes
Main Examinations
Clinical Department
Inheritance Pattern
Parent-of-Origin
CB-Ver
Clinical Implication
Description of pathogenic mechanism [Most_Susceptible_gene]
Neoplastic disease catalog
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Genomic location
