A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15806905



Internal ID19878991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128782714..128788413hg38UCSC Ensembl
chr11:128652609..128658308hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg385700
hg195700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4199696
Supporting Variants
Samples
Known GenesFLI1
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)nssv15806905
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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