A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16060520



Internal ID19785774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45257948..45257949hg38UCSC Ensembl
chr5:45258050..45258051hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4545895
Supporting Variants
Samples
Known GenesHCN1
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)nssv16060520
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.071071


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