A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15864837



Internal ID19936777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28271407..28271689hg38UCSC Ensembl
chr2:28494274..28494556hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4072243
Supporting Variants
Samples
Known GenesBRE
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)nssv15864837
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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