A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16063230



Internal ID20135186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94704575..94704576hg38UCSC Ensembl
chr5:94040280..94040281hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4554256
Supporting Variants
Samples
Known Genes
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)nssv16063230
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01986


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