A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115179



Internal ID21298445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68475301..68618203hg38UCSC Ensembl
Innerchr4:69341019..69483921hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38142903
hg19142903
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv887n145
Supporting Variantsnssv14107681, nssv14107359, nssv14107350, nssv14089321, nssv14107373, nssv14090483, nssv14092223, nssv14107196, nssv14090418, nssv14094641, nssv14092211, nssv14107207, nssv14090614
Samplessample98, sample154, sample142, sample171, sample232, sample19, sample345, sample44, sample43, sample18, sample234, sample113, sample46
Known GenesTMPRSS11E, UGT2B17
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115179
Frequency
Sample Size467
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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