A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062089



Internal ID19151308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47861245..47881383hg38UCSC Ensembl
Innerchr18:45387616..45407754hg19UCSC Ensembl
Innerchr18:43641614..43661752hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3820139
hg1920139
hg1820139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3353n100
Supporting Variantsnssv3565424
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)nsv1062089
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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