A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15868295



Internal ID19940235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54907904..54908793hg38UCSC Ensembl
chr2:55135041..55135930hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38890
hg19890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4057917
Supporting Variants
Samples
Known GenesEML6
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)nssv15868295
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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