A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052555



Internal ID102890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114559292..114628633hg38UCSC Ensembl
chr11:114430014..114499355hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3869342
hg1969342
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505847
Supporting Variants
Samples
Known GenesNXPE1, NXPE4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052555
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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