A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15971883



Internal ID19697137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23190590..23203793hg38UCSC Ensembl
chr3:23232081..23245284hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3813204
hg1913204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4073804
Supporting Variants
Samples
Known GenesUBE2E2
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)nssv15971883
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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