A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116171



Internal ID21299437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68475301..68623992hg38UCSC Ensembl
Innerchr4:69341019..69489710hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38148692
hg19148692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv887n145
Supporting Variantsnssv14094829, nssv14093683, nssv14093457, nssv14107395
Samplessample379, sample51, sample293, sample339
Known GenesTMPRSS11E, UGT2B17
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116171
Frequency
Sample Size467
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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