A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505847



Internal ID282611
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 StatusM
Merged Variants
Supporting Variantsnssv17052555
Samples
Known GenesNXPE1, NXPE4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505847
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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