A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065132



Internal ID18807663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58357363..58452101hg38UCSC Ensembl
Innerchr18:56024595..56119333hg19UCSC Ensembl
Innerchr18:54175575..54270313hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3894739
hg1994739
hg1894739
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3364n100
Supporting Variantsnssv3565490
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)nsv1065132
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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