A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3627038



Internal ID18925319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68439209..68591570hg38UCSC Ensembl
Innerchr4:69304927..69457288hg19UCSC Ensembl
Innerchr4:68987522..69139883hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38152362
hg19152362
hg18152362
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005790
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)nssv3627038
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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