A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057298



Internal ID19146517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47847868..47878057hg38UCSC Ensembl
Innerchr18:45374239..45404428hg19UCSC Ensembl
Innerchr18:43628237..43658426hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3830190
hg1930190
hg1830190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3350n100
Supporting Variantsnssv3565410
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)nsv1057298
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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