A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4206926



Internal ID20067503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67122731..67124017hg38UCSC Ensembl
chr11:66890202..66891488hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg381287
hg191287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15802049
Samples
Known GenesKDM2A
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)nsv4206926
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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