A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066646



Internal ID19155865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47857930..47879871hg38UCSC Ensembl
Innerchr18:45384301..45406242hg19UCSC Ensembl
Innerchr18:43638299..43660240hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3821942
hg1921942
hg1821942
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3353n100
Supporting Variantsnssv3565415
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)nsv1066646
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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