A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5264n100



Internal ID22791351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68506273..68674295hg38UCSC Ensembl
chr4:69371991..69540013hg19UCSC Ensembl
chr4:69054586..69222608hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38168023
hg19168023
hg18168023
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000278, nsv1005276, nsv1000201, nsv1007342, nsv1005370, nsv1002442, nsv1005609, nsv1000761, nsv1002317
Samples
Known GenesUGT2B15, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5264n100
Frequency
Sample Size11257
Observed Gain766
Observed Loss34
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer