A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15804272



Internal ID19529672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114530888..114735901hg38UCSC Ensembl
chr11:114401610..114606623hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38205014
hg19205014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4207077
Supporting Variants
Samples
Known GenesNXPE1, NXPE2, NXPE4
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)nssv15804272
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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