A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062318



Internal ID19151537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47847868..47868409hg38UCSC Ensembl
Innerchr18:45374239..45394780hg19UCSC Ensembl
Innerchr18:43628237..43648778hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3820542
hg1920542
hg1820542
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3565409, nssv3565408, nssv3565407
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)nsv1062318
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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