A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15959646



Internal ID19684900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64503782..64509882hg38UCSC Ensembl
chr17:62499900..62506000hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg386101
hg196101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4260500
Supporting Variants
Samples
Known GenesCEP95, DDX5
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)nssv15959646
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002226


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