A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054453



Internal ID19143672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:100931790..100943895hg38UCSC Ensembl
Innerchr11:100802521..100814626hg19UCSC Ensembl
Innerchr11:100307731..100319836hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3812106
hg1912106
hg1812106
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1266n100
Supporting Variantsnssv3522143
Samples
Known GenesARHGAP42
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054453
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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