A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040942



Internal ID18783473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:100024646..100758405hg38UCSC Ensembl
Innerchr11:99895378..100629136hg19UCSC Ensembl
Innerchr11:99400588..100134346hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38733760
hg19733759
hg18733759
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1265n100
Supporting Variantsnssv3506324
Samples
Known GenesARHGAP42, CNTN5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040942
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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