A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966566



Internal ID20038506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54226945..54277745hg38UCSC Ensembl
chr2:54454082..54504882hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3850801
hg1950801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4065207
Supporting Variants
Samples
Known GenesACYP2, TSPYL6
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)nssv15966566
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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