A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955708



Internal ID19680962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:85067868..85267059hg38UCSC Ensembl
chr16:85101474..85300665hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38199192
hg19199192
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4242439
Supporting Variants
Samples
Known GenesFAM92B, KIAA0513, LOC400548
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)nssv15955708
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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