A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4248597



Internal ID20443259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:51992356..51993869hg38UCSC Ensembl
chr16:52026268..52027781hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381514
hg191514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv895n166
Supporting Variantsnssv15831067
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)nsv4248597
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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