A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955006



Internal ID19680260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70333597..70371097hg38UCSC Ensembl
chr16:70367500..70405000hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3837501
hg1937501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4234189
Supporting Variants
Samples
Known GenesDDX19A, DDX19B, LOC100506083
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)nssv15955006
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000324


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