A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15833380



Internal ID19558780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83694374..83726496hg38UCSC Ensembl
chr16:83727979..83760101hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3832123
hg1932123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4248649
Supporting Variants
Samples
Known GenesCDH13
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)nssv15833380
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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