A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4573075



Internal ID20302950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4798758..4798759hg38UCSC Ensembl
chr20:4779404..4779405hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16030863
Samples
Known GenesRASSF2
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)nsv4573075
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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