A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057525



Internal ID19146744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47842216..47881034hg38UCSC Ensembl
Innerchr18:45368587..45407405hg19UCSC Ensembl
Innerchr18:43622585..43661403hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3838819
hg1938819
hg1838819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3350n100
Supporting Variantsnssv3565402, nssv3565403
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)nsv1057525
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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