A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15859340



Internal ID19931280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47261580..47261975hg38UCSC Ensembl
chr20:45890324..45890719hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4290494
Supporting Variants
Samples
Known GenesZMYND8
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)nssv15859340
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00014


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