A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15860435



Internal ID19932375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33824682..33828210hg38UCSC Ensembl
chr20:32412488..32416016hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg383529
hg193529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4288028
Supporting Variants
Samples
Known GenesCHMP4B
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)nssv15860435
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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