A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16052163



Internal ID20124119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194641865..194641866hg38UCSC Ensembl
chr3:194362594..194362595hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4470831
Supporting Variants
Samples
Known GenesLSG1
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)nssv16052163
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.028027


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