A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15886357



Internal ID19611611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133603661..133605405hg38UCSC Ensembl
chr3:133322505..133324249hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381745
hg191745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4094208
Supporting Variants
Samples
Known GenesTOPBP1
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
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15886357
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.008804


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