A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014494



Internal ID19103712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68418861..68615207hg38UCSC Ensembl
Innerchr4:69284579..69480925hg19UCSC Ensembl
Innerchr4:68967174..69163520hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38196347
hg19196347
hg18196347
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5249n100
Supporting Variantsnssv3740210
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)nsv1014494
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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