A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057181



Internal ID19146400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47861245..47874989hg38UCSC Ensembl
Innerchr18:45387616..45401360hg19UCSC Ensembl
Innerchr18:43641614..43655358hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3813745
hg1913745
hg1813745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3352n100
Supporting Variantsnssv3565417
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)nsv1057181
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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