A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040522



Internal ID18783053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:108098630..108178945hg38UCSC Ensembl
Innerchr11:107969357..108049672hg19UCSC Ensembl
Innerchr11:107474567..107554882hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3880316
hg1980316
hg1880316
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1278n100
Supporting Variantsnssv3507730
Samples
Known GenesACAT1, CUL5, NPAT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040522
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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