A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789902



Internal ID19515269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133940180..133944498hg38UCSC Ensembl
chr3:133659024..133663342hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg384319
hg194319
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4333876
Supporting Variants
Samples
Known GenesSLCO2A1
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)nssv15789902
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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