A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4246579



Internal ID20441872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47897092..47906195hg38UCSC Ensembl
chr16:47931003..47940106hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg389104
hg199104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv894n166
Supporting Variantsnssv15831284
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)nsv4246579
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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