A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955696



Internal ID19680950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84458394..84571794hg38UCSC Ensembl
chr16:84492000..84605400hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38113401
hg19113401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4252367
Supporting Variants
Samples
Known GenesATP2C2, COTL1, TLDC1
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)nssv15955696
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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