A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15862943



Internal ID19934883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43075987..43078300hg38UCSC Ensembl
chr21:44496097..44498410hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382314
hg192314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4533185
Supporting Variants
Samples
Known GenesCBS
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)nssv15862943
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000323


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