Structural variations (CNVs and other type SVs) contribute to a large extent to genomic diversity and are highly relevant for various human diseases. The sensitivity and specificity of SV identification has significantly improved with the development and widespread application of high-throughput sequencing (HTS), making clinical diagnosis and treatment more accurate. Therefore, the SV4GD (Structural Variation for Genetic Diseases, https://bio-computing.hrbmu.edu.cn/SV4GD/), a manually curated database, was constructed to provide a comprehensive, standardized, and user-friendly data resource for selective batch browsing, searching, downloading, and comparing those germline disease-specific SVs. The current SV4GD compiles 2,695 items of Disease-Related SVs covering 40 neoplastic diseases and 223 non-neoplastic genetic diseases, and 7,610 SVs Detected in Patients covering 23 neoplastic diseases and 22 non-neoplastic genetic diseases. These SVs involved deletion, duplication, translocation, inversion, insertions, triplication, fusion, long-range, and rearrangement. SV4GD provides a browser and search engine to query for the detailed information of SVs and human diseases, simply by inputting a full name for a certain disease or main phenotypes, chromosomal position, or corresponding chromosomal band based on the GRCh38/hg38 or GRCh37/hg19 coordinates. Taken together, SV4GD provides an online easy-to-use interface integrated analysis tools for clinical and molecular genetics research.

1. For browsing

Step 1：select one of disease category.

Step 2：Click on the interested specific disease, and the genomic distribution will display accompanied with two tables of the results, one is for Disease-Related SVs and one is for SVs Detected in Patients.

2. For searching

Step 1：Select or input any information of ① to ⑥, and then click Submit. Two result tables will be returned, one is for Disease-Related SVs and the other one is for SVs Detected in Patients.

Step 2：Click on the Toggle Column, the user could select the interested information to be showed on the current page and download them in any form in the top right.

Step 3：Click on the detail button, the user will be leaded to a new page including the details of literature, variant, patient, and study cohort (for SVs Detected in Patients only).

3. For downloading

The user could download the files in any format by clicking on the corresponding button.

Meanwhile, if the user only wants to download the records interested in, the user could select the items step by step. and then obtain them through the button in the top right.

We welcome users to provide the clues for novel germline disease-specific structural variants detected by low/high-throughput sequencing for SV4GD. Please submit the DOI and/or PMID of the articles affiliated with other details (Submit new entries).
And if the users found any errors or inconvenient usage while surfing on the SV4GD, please do not hesitate to contact us (Submit error correction prompts); we will appreciate your contribution to the improvement.

gutMGene (https://bio-computing.hrbmu.edu.cn/gutmgene): a comprehensive database for target genes of gut microbes and microbial metabolites.

gutMDisorder (https://bio-computing.hrbmu.edu.cn/gutMDisorder): a comprehensive resource for associations between gut microbes and phenotypes or interventions in Human and Mouse, derived from manual literature extraction and raw data reprocessing.

Scovid (https://bio-computing.hrbmu.edu.cn/scovid): a comprehensive atlas for exposing the molecular characteristics of COVID-19 and other coronavirus.

microbioTA (https://bio-computing.hrbmu.edu.cn/microbiota): a microbial reannotation database that includes tissue microbial abundance data and comprehensive analysis results for human and mouse tumor tissue RNA sequencing data.

Human Molecular Genetics Group, National Health Commission (NHC) Key Laboratory of Molecular Probe and Targeted Theranostics, Harbin Medical University, Harbin 150001, China

College of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150001, China

Biomedical Informatics Group, National Health Commission (NHC) Key Laboratory of Molecular Probe and Targeted Theranostics, Harbin Medical University, Harbin 150001, China

Lei Shi: shilei_0328@hrbmu.edu.cn

Liang Cheng: liangcheng@hrbmu.edu.cn

Xue Zhang: xuezhang@hrbmu.edu.cn