A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15954973



Internal ID20026913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69207410..69220457hg38UCSC Ensembl
chr16:69241313..69254360hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3813048
hg1913048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4250009
Supporting Variants
Samples
Known GenesSNTB2
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)nssv15954973
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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