A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028106



Internal ID18770637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180693010..180801163hg38UCSC Ensembl
Innerchr5:180120010..180228163hg19UCSC Ensembl
Innerchr5:180052616..180160769hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38108154
hg19108154
hg18108154
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5849n100
Supporting Variantsnssv3746697
Samples
Known GenesMGAT1, OR2Y1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028106
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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