A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067389



Internal ID18809920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58351189..58451767hg38UCSC Ensembl
Innerchr18:56018421..56118999hg19UCSC Ensembl
Innerchr18:54169401..54269979hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38100579
hg19100579
hg18100579
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3364n100
Supporting Variantsnssv3565487
Samples
Known GenesMIR122, MIR3591, NEDD4L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067389
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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