A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039549



Internal ID18782080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:108079845..108163821hg38UCSC Ensembl
Innerchr11:107950572..108034548hg19UCSC Ensembl
Innerchr11:107455782..107539758hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3883977
hg1983977
hg1883977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1278n100
Supporting Variantsnssv3710748
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)nsv1039549
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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