A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16063509



Internal ID19788763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81321946..81321947hg38UCSC Ensembl
chr5:80617765..80617766hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4540105
Supporting Variants
Samples
Known GenesRNU5D-1, RNU5E-1
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)nssv16063509
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.015013


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