*If no results are returned, please reduce the filter criteria, such as searching only by chromosomal band or genomic region.







         


     Disease-Related SVs
    Toggle Columns
    Disease Category Main Category Disease Diagnosis Main Phenotypes 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 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 Main Phenotypes 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 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
    Disease Category Main Category Disease Diagnosis Main Phenotypes 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 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 Main Phenotypes 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 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