A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15947346



Internal ID20019286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62744945..62751410hg38UCSC Ensembl
chr11:62512417..62518882hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg386466
hg196466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4206638
Supporting Variants
Samples
Known GenesZBTB3
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)nssv15947346
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000097


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