A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15836619



Internal ID19908705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58474354..58479612hg38UCSC Ensembl
chr17:56551715..56556973hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg385259
hg195259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4253702
Supporting Variants
Samples
Known GenesHSF5
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)nssv15836619
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000277


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