A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3740265



Internal ID19038546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68506273..68591332hg38UCSC Ensembl
Innerchr4:69371991..69457050hg19UCSC Ensembl
Innerchr4:69054586..69139645hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3885060
hg1985060
hg1885060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000458
Supporting Variants
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3740265
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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