A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15904679



Internal ID19976619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120574536..120575274hg38UCSC Ensembl
chr5:119910231..119910969hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38739
hg19739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4127065
Supporting Variants
Samples
Known GenesPRR16
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)nssv15904679
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.081396


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