A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003327



Internal ID19092546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68530194..68607148hg38UCSC Ensembl
Innerchr4:69395912..69472866hg19UCSC Ensembl
Innerchr4:69078507..69155461hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3876955
hg1976955
hg1876955
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5274n100
Supporting Variantsnssv3630094, nssv3743884
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)nsv1003327
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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