A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4240720



Internal ID20091322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:85027494..85033794hg38UCSC Ensembl
chr16:85061100..85067400hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg386301
hg196301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15955707
Samples
Known GenesKIAA0513
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 ID12345678
Accession Number(s)nsv4240720
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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