A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998130



Internal ID18810980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68450721..68639385hg38UCSC Ensembl
Innerchr4:69316439..69505103hg19UCSC Ensembl
Innerchr4:68999034..69187698hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38188665
hg19188665
hg18188665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5253n100
Supporting Variantsnssv3627055
Samples
Known GenesTMPRSS11E, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998130
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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