A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058673



Internal ID19147892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47833641..47878121hg38UCSC Ensembl
Innerchr18:45360012..45404492hg19UCSC Ensembl
Innerchr18:43614010..43658490hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3844481
hg1944481
hg1844481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3347n100
Supporting Variantsnssv3565396
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)nsv1058673
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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