A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3649320



Internal ID18600915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180681841..180799865hg38UCSC Ensembl
Innerchr5:180108841..180226865hg19UCSC Ensembl
Innerchr5:180041447..180159471hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38118025
hg19118025
hg18118025
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1024943
Supporting Variants
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)nssv3649320
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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