A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955057



Internal ID20026997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:74626928..74627290hg38UCSC Ensembl
chr16:74660826..74661188hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4235729
Supporting Variants
Samples
Known GenesRFWD3
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)nssv15955057
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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