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Disease-Related SVs
https://bio-annotation.cn/SV4GD/data/Disease-Related SVs.xlsx
SVs Detected in Patients
https://bio-annotation.cn/SV4GD/data/SVs Detected in Patients.xlsx
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PMID
Journal
Article Title
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Detection Platform
Lab_ID
CB-Ver
Chromosome Band
Genome Coordinate_Hg19
Genome Coordinate_Hg38
SV Size
SV Type
Variant Type
Breakpoints
Pathogenicity
ACMG Score (Standard)
Formation Mechanism
Patient/Family Detected SV
Gender
Diagnosis Age
Onset Age
Country/Region
Ethnic Group
Main Phenotypes
Main Examinations
Clinical Department
Disease Diagnosis
DOID
OMIM
Inheritance Pattern
Parent-of-Origin
Clinical Implications
Involved Gene
Main Category
Description of pathogenic mechanism [Most_Susceptible_gene]
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Download information for SVs Detected in Patients
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Disease Category
PMID
Journal
Article Title
Authors
Year
Detection Platform
Lab_ID
CB-Ver
Chromosome Band
Genome Coordinate_Hg19
Genome Coordinate_Hg38
SV Size
SV Type
Variant Type
Breakpoints
Formation Mechanism
Patient/Family Detected SV
Gender
Diagnosis Age
Onset Age
Country/Region
Ethnic Group
Main Phenotypes
Main Examinations
Clinical Department
Disease Diagnosis
DOID
OMIM
Inheritance Pattern
Parent-of-Origin
Patient Number of Discovery Cohort
Controls Number of Discovery Cohort
Patient Number of Validation Cohort
Controls Number of Validation Cohort
Involved Gene
Main Category
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