A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3489680



Internal ID18730635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243495790..243515087hg38UCSC Ensembl
Innerchr1:243659092..243678389hg19UCSC Ensembl
Innerchr1:241725715..241745012hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3819298
hg1919298
hg1819298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009968
Supporting Variants
Samples
Known GenesAKT3, SDCCAG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3489680
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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