*If no results are returned, please reduce the filter criteria, such as searching only by chromosomal band or genomic region.
Toggle Columns
Select columns to display:
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] |
Toggle Columns
Select columns to display:
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 |