A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4011953



Internal ID22073584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:45652309..45657282hg38UCSC Ensembl
Outerchr18:45645731..45659430hg38UCSC Ensembl
Innerchr18:43232274..43237247hg19UCSC Ensembl
Outerchr18:43225696..43239395hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3813700
hg1913700
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155513
Supporting Variants
Samples
Known GenesSLC14A2
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4011953
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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