dbVar July-August 2023 Release

dbVar to drop support for NCBI35 and NCBI36 assemblies

Please note: Improvements in genome sequencing and assembly have rendered older human genome assemblies obsolete. Accordingly, beginning with the September-October 2023 monthly data release dbVar will drop support for NCBI35 and NCBI36. Future data releases will include remapping data on GRCh37 (hg19) and subsequent assemblies only.
Any questions or concerns about this change may be emailed to dbvar@ncbi.nlm.nih.gov.​

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dbVar July-August 2023 Release

Summary:

July-August 2023 Release

New/updated studies         5New Variant regions         474,060New Variant calls           509,104Total studies               231Total Variant regions       8,164,049Total Variant calls         38,361,835Non-Redundant Deletions     2,177,022Non-Redundant Duplications  787,415Non-Redundant Insertions    1,648,575

dbVar Resources:

Study Browser
Human Data Hub
Organism List
FTP files
Tools for analyzing dbVar data
Non-Redundant Structural Variants

New/updated studies:

Study:           nstd102 (Clinical Structural Variants)Publication:     See individual variant records for publicationsDescription:     Structural Variants with clinical assertions, submitted to ClinVar by external labs. dbVar now imports all placements from ClinVar as "submitted" and only remaps what is missing in order to place all variants on both GRCh37 and GRCh38. See Variant Summary counts for nstd102 in [dbVar Variant Summary|/dbvar/content/var_summary/#nstd102]. See the latest statistics for nstd102 in [Summary of nstd102 (Clinical Structural Variants)|/dbvar/content/clinvar_summary].Organism:        Human(9606)Study Type:      Case-SetSubmitter:       ClinVar (NCBI)Variant Calls:   88133Variant Regions: 83537FTP:             https://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_study

Study:           nstd224 (Zarrei et al 2023)Publication:     Zarrei et al. 2023Description:     We assessed the relationship of gene copy number variation (CNV) in mental health/neurodevelopmental traits and diagnoses, physical health, and cognitive biomarkers in a community sample of 7,100 unrelated European, and East Asian children and youth (Spit for Science). Diagnoses of mental health disorders were found in 17.5% of participants and 27.6% scored in the highest 10% on either or both ADHD and OCD trait measures. Clinically relevant CNVs were present in 3.9% of participants and were associated with elevated scores on a continuous measure of ADHD (p=5.0x10-3), on a cognitive biomarker of mental health (response inhibition (p=1.0x10-2)), and on prevalence of mental disorders (p=1.9x10-6, odds ratio: 3.09). With a rise of mental illness, our data establishes a baseline for delineating genetic contributors in paediatric-onset conditions. See Variant Summary counts for nstd224 in [dbVar Variant Summary|/dbvar/content/var_summary/#nstd224].Organism:        Human(9606)Study Type:      Case-ControlSubmitter:       Jeff MacDonald (The Hospital for Sick Children)Variant Calls:   44671Variant Regions: 14225FTP:             https://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_study

Study:           nstd229 (Jun et al 2023)Description:     This is a SV call set across TOPMed of 138,134 WGS data sets from various ethnicities. See Variant Summary counts for nstd229 in [dbVar Variant Summary|/dbvar/content/var_summary/#nstd229].Organism:        Human(9606)Study Type:      CollectionSubmitter:       Fritz Sedlazeck (Baylor College of Medicine)Variant Calls:   376298Variant Regions: 376296FTP:             https://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_study

Study:           nstd233 (Bzdega et al 2023)Description:     To elucidate the pathogenetics of Lethal Lung Developmental Disorders (LLDDs) in newborns. See Variant Summary counts for nstd233 in [dbVar Variant Summary|/dbvar/content/var_summary/#nstd233].Organism:        Human(9606)Study Type:      Case-SetSubmitter:       Justyna Karolak (Poznan University of Medical Sciences, Chair and Department of Genetics and Pharmacutical Microbiology)Variant Calls:   1Variant Regions: 1FTP:             https://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_study

Study:           nstd234 (Malhotra et al 2023)Description:     ~50Mb inversion in DMD in an affected individual. See Variant Summary counts for nstd234 in [dbVar Variant Summary|/dbvar/content/var_summary/#nstd234].Organism:        Human(9606)Study Type:      Case-SetSubmitter:       Alka Malhotra (Illumina, Inc.)Variant Calls:   1Variant Regions: 1FTP:             https://ftp.ncbi.nlm.nih.gov/pub/dbVar/data/Homo_sapiens/by_study