A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053074



Internal ID18795605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77579413..77724786hg38UCSC Ensembl
Innerchr11:77290458..77435831hg19UCSC Ensembl
Innerchr11:76968106..77113479hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38145374
hg19145374
hg18145374
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1234n100
Supporting Variantsnssv3710664
Samples
Known GenesAQP11, CLNS1A, RSF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053074
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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