A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15891708



Internal ID19963648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119263445..119274845hg38UCSC Ensembl
chr4:120184600..120196000hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3811401
hg1911401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4094652
Supporting Variants
Samples
Known GenesUSP53
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)nssv15891708
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000049


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