A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970614



Internal ID19695868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47288166..47453265hg38UCSC Ensembl
chr3:47329656..47494755hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38165100
hg19165100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4084135
Supporting Variants
Samples
Known GenesKLHL18, PTPN23, SCAP
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)nssv15970614
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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