A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5253n100



Internal ID22791340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68450721..68639385hg38UCSC Ensembl
chr4:69316439..69505103hg19UCSC Ensembl
chr4:68999034..69187698hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38188665
hg19188665
hg18188665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998130, nsv1001663, nsv1000892, nsv1013572, nsv1010965, nsv1005150, nsv1005837, nsv1012791, nsv1013185, nsv1001659, nsv1007977, nsv1006765
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)dgv5253n100
Frequency
Sample Size11257
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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