A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5248n100



Internal ID22791335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68418861..68570905hg38UCSC Ensembl
chr4:69284579..69436623hg19UCSC Ensembl
chr4:68967174..69119218hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38152045
hg19152045
hg18152045
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999007, nsv999516, nsv1011498, nsv1013339, nsv1002246, nsv1006694, nsv1010170
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)dgv5248n100
Frequency
Sample Size11257
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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