A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4207518



Internal ID20414616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:116941311..116953279hg38UCSC Ensembl
chr11:116812027..116823995hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3811969
hg1911969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15804915
Samples
Known GenesSIK3
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)nsv4207518
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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