A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15983655



Internal ID19708909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86520140..86520346hg38UCSC Ensembl
chr8:87532368..87532574hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4170694
Supporting Variants
Samples
Known GenesCPNE3
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)nssv15983655
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.030449


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