A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576393



Internal ID16017116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:5562156..5896377hg38UCSC Ensembl
Innerchr18:5562155..5896376hg19UCSC Ensembl
Innerchr18:5552155..5886376hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38334222
hg19334222
hg18334222
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv877978
Samples
Known GenesEPB41L3, LOC645355, MIR3976, TMEM200C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576393
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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