A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064797



Internal ID19154016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47845656..47868015hg38UCSC Ensembl
Innerchr18:45372027..45394386hg19UCSC Ensembl
Innerchr18:43626025..43648384hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3822360
hg1922360
hg1822360
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3348n100
Supporting Variantsnssv3565405
Samples
Known GenesSMAD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064797
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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