A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4239294



Internal ID20437051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80410439..80539645hg38UCSC Ensembl
chr16:80444336..80573542hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38129207
hg19129207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv915n166
Supporting Variantsnssv15830844
Samples
Known Genes
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)nsv4239294
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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