A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15954942



Internal ID20026882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67480530..67496732hg38UCSC Ensembl
chr16:67514433..67530635hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3816203
hg1916203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4243165
Supporting Variants
Samples
Known GenesAGRP, ATP6V0D1
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)nssv15954942
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000415


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