A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15954260



Internal ID19679514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46467087..46675588hg38UCSC Ensembl
chr16:46500999..46709500hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg38208502
hg19208502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4532251
Supporting Variants
Samples
Known GenesANKRD26P1, SHCBP1, VPS35
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)nssv15954260
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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