SV4GD

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Non-neoplastic genetic disease catalog

Genomic location

*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]

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]

SVs Detected in Patients

Toggle Columns

Select columns to display:

Disease Category
Main Category
Disease Diagnosis
Genome Coordinate_Hg38
Genome Coordinate_Hg19
Chromosome Band
SV Size
SV Type
Variant Type
Patient/Family Detected SV
Involved Gene
Details
PMID
DOID
OMIM
Queried in DGV database
Queried in Decipher database
Breakpoints
Detection Platform
Data Source
Journal
Article Title
Authors
Year
Lab_ID
Formation Mechanism
Gender
Diagnosis Age
Onset Age
Country/Region
Ethnic Group
Main Phenotypes
Main Examinations
Clinical Department
Inheritance Pattern
Parent-of-Origin
CB-Ver
Patient Number of Discovery Cohort
Controls Number of Discovery Cohort
Patient Number of Validation Cohort
Controls Number of Validation Cohort

Disease Category	Main Category	Disease Diagnosis	Genome Coordinate_Hg38	Genome Coordinate_Hg19	Chromosome Band	SV Size	SV Type	Variant Type	Patient/Family Detected SV	Involved Gene	Details	PMID	DOID	OMIM	Queried in DGV database	Queried in Decipher database	Breakpoints	Detection Platform	Data Source	Journal	Article Title	Authors	Year	Lab_ID	Formation Mechanism	Gender	Diagnosis Age	Onset Age	Country/Region	Ethnic Group	Main Phenotypes	Main Examinations	Clinical Department	Inheritance Pattern	Parent-of-Origin	CB-Ver	Patient Number of Discovery Cohort	Controls Number of Discovery Cohort	Patient Number of Validation Cohort	Controls Number of Validation Cohort