A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005790



Internal ID19095007
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 StatusM
Merged Variantsdgv5249n100
Supporting Variantsnssv3627038
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)nsv1005790
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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