A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14100948



Internal ID21287105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:5888233..5897872hg38UCSC Ensembl
Innerchr18:5888232..5897871hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg389640
hg199640
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3111104
Supporting Variants
Samplessample397
Known GenesTMEM200C
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14100948
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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