A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4262165



Internal ID20452601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4737796..4739958hg38UCSC Ensembl
chr20:4718442..4720604hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg382163
hg192163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15856940
Samples
Known GenesPRNT
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)nsv4262165
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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