A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003108



Internal ID18745640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68394343..68581958hg38UCSC Ensembl
Innerchr4:69260061..69447676hg19UCSC Ensembl
Innerchr4:68942656..69130271hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38187616
hg19187616
hg18187616
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5243n100
Supporting Variantsnssv3740200, nssv3740199
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)nsv1003108
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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