A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15975020



Internal ID20046960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43039398..43044898hg38UCSC Ensembl
chr5:43039500..43045000hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg385501
hg195501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4124878
Supporting Variants
Samples
Known GenesANXA2R, LOC153684, LOC648987
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)nssv15975020
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001421


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