A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4272525



Internal ID20459842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57848186..58008589hg38UCSC Ensembl
chr20:56423242..56583645hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38160404
hg19160404
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964925
Samples
Known GenesMIR4532
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)nsv4272525
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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