A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3626818



Internal ID18578413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68394343..68623605hg38UCSC Ensembl
Innerchr4:69260061..69489323hg19UCSC Ensembl
Innerchr4:68942656..69171918hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38229263
hg19229263
hg18229263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000946
Supporting Variants
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)nssv3626818
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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