A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117752



Internal ID21301018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:97074345..97199291hg38UCSC Ensembl
Innerchr5:96410049..96534995hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38124947
hg19124947
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14108828
Samplessample167
Known GenesLIX1, RIOK2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117752
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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