A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15804964



Internal ID19877050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117842951..117843315hg38UCSC Ensembl
chr11:117713666..117714030hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4209165
Supporting Variants
Samples
Known GenesFXYD6, FXYD6-FXYD2
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)nssv15804964
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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