A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15957667



Internal ID19682921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81868503..82419361hg38UCSC Ensembl
chr16:81902108..82452966hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38550859
hg19550859
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4243774
Supporting Variants
Samples
Known GenesHSD17B2, MPHOSPH6, PLCG2, SDR42E1
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)nssv15957667
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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