A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048892



Internal ID18791423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77579413..77720183hg38UCSC Ensembl
Innerchr11:77290458..77431228hg19UCSC Ensembl
Innerchr11:76968106..77108876hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38140771
hg19140771
hg18140771
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1234n100
Supporting Variantsnssv3710663
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)nsv1048892
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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