A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3639047



Internal ID18937328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78459932..78579464hg38UCSC Ensembl
Innerchr5:77755755..77875287hg19UCSC Ensembl
Innerchr5:77791511..77911043hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38119533
hg19119533
hg18119533
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1021871
Supporting Variants
Samples
Known GenesLHFPL2, SCAMP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3639047
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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