A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4235244



Internal ID20087613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69677025..69924863hg38UCSC Ensembl
chr16:69710928..69958766hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38247839
hg19247839
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954980
Samples
Known GenesNFAT5, NOB1, NQO1, WWP2
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)nsv4235244
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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