A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15827675



Internal ID19899761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4339489..4340271hg38UCSC Ensembl
chr16:4389490..4390272hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38783
hg19783
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4251279
Supporting Variants
Samples
Known GenesCORO7-PAM16, GLIS2, PAM16
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)nssv15827675
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000461


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