A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15833987



Internal ID19559387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84293164..84388908hg38UCSC Ensembl
chr16:84326770..84422514hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3895745
hg1995745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4241800
Supporting Variants
Samples
Known GenesATP2C2, WFDC1
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)nssv15833987
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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