A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3649256



Internal ID18947537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176126233..176245085hg38UCSC Ensembl
Innerchr5:175553236..175672088hg19UCSC Ensembl
Innerchr5:175485842..175604694hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38118853
hg19118853
hg18118853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1032255
Supporting Variants
Samples
Known GenesLOC643201, SIMC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3649256
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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