A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113468



Internal ID21296734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:53083855..53268482hg38UCSC Ensembl
Innerchr6:52948653..53133280hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38184628
hg19184628
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14087663
Samplessample208
Known GenesELOVL5, FBXO9, GCM1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113468
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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