A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3565398



Internal ID18863679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47842216..47861367hg38UCSC Ensembl
Innerchr18:45368587..45387738hg19UCSC Ensembl
Innerchr18:43622585..43641736hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3819152
hg1919152
hg1819152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1062894
Supporting Variants
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)nssv3565398
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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