A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051783



Internal ID19141002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:120375515..120443469hg38UCSC Ensembl
Innerchr11:120246224..120314178hg19UCSC Ensembl
Innerchr11:119751434..119819388hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3867955
hg1967955
hg1867955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3521741
Samples
Known GenesARHGEF12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051783
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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