A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv888n145



Internal ID22813904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68475301..68748292hg38UCSC Ensembl
chr4:69341019..69614010hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38272992
hg19272992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3110364, nsv3116543
Samplessample90, sample220, sample11, sample69, sample93, sample343, sample275, sample336
Known GenesTMPRSS11E, UGT2B15, UGT2B17
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv888n145
Frequency
Sample Size467
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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