A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15975342



Internal ID20047282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177344348..177365336hg38UCSC Ensembl
chr5:176771349..176792337hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3820989
hg1920989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4131529
Supporting Variants
Samples
Known GenesLMAN2, RGS14
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)nssv15975342
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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