A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067147



Internal ID19156366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47862250..47878397hg38UCSC Ensembl
Innerchr18:45388621..45404768hg19UCSC Ensembl
Innerchr18:43642619..43658766hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3816148
hg1916148
hg1816148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3353n100
Supporting Variantsnssv3565430
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)nsv1067147
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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