A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4078553



Internal ID20321208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240030433..240045583hg38UCSC Ensembl
chr2:240969850..240985000hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3815151
hg1915151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15971017
Samples
Known GenesOR6B3, PRR21
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)nsv4078553
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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