A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15976708



Internal ID20048648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:19793890..19961891hg38UCSC Ensembl
chr5:19793999..19962000hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38168002
hg19168002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4522387
Supporting Variants
Samples
Known GenesCDH18
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 ID32461652
Accession Number(s)nssv15976708
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000094


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