A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16012021



Internal ID20083977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:63589846..63589847hg38UCSC Ensembl
chr15:63882045..63882046hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4544241
Supporting Variants
Samples
Known GenesUSP3, USP3-AS1
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 ID32461652
Accession Number(s)nssv16012021
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.025141


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