A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592866



Internal ID16380275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:192505948..192575964hg38UCSC Ensembl
Innerchr3:192223737..192293753hg19UCSC Ensembl
Innerchr3:193706431..193776447hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3870017
hg1970017
hg1870017
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv984112
Samples
Known GenesFGF12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592866
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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