A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116543



Internal ID21299809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68475301..68748292hg38UCSC Ensembl
Innerchr4:69341019..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 Variantsdgv888n145
Supporting Variantsnssv14107633, nssv14107166
Samplessample90, sample11
Known GenesTMPRSS11E, UGT2B15, UGT2B17
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116543
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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