A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117331



Internal ID21300597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68475301..68617463hg38UCSC Ensembl
Innerchr4:69341019..69483181hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38142163
hg19142163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv887n145
Supporting Variantsnssv14107114, nssv14092026, nssv14107259, nssv14107604, nssv14090604, nssv14096627, nssv14094881, nssv14107627, nssv14093420, nssv14092128, nssv14107596, nssv14089268, nssv14107263, nssv14107663, nssv14090721, nssv14094915, nssv14107341, nssv14107533, nssv14096616, nssv14093542, nssv14092179, nssv14094706
Samplessample83, sample84, sample170, sample420, sample3, sample42, sample28, sample95, sample360, sample394, sample29, sample76, sample310, sample226, sample387, sample217, sample287, sample418, sample102, sample197, sample89, sample188
Known GenesTMPRSS11E, UGT2B17
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117331
Frequency
Sample Size467
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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