A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4211581



Internal ID20417542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:116992762..116996583hg38UCSC Ensembl
chr11:116863478..116867299hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383822
hg193822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15804919
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)nsv4211581
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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