A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15954906



Internal ID19680160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:64951325..64951930hg38UCSC Ensembl
chr16:64985228..64985833hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38606
hg19606
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4531334
Supporting Variants
Samples
Known GenesCDH11
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)nssv15954906
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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