A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790071



Internal ID19515440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:37299924..38069757hg38UCSC Ensembl
chr3:37341415..38111248hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38769834
hg19769834
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4337904
Supporting Variants
Samples
Known GenesC3orf35, CTDSPL, DLEC1, GOLGA4, ITGA9, MIR26A1, PLCD1, VILL
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15790071
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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