A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111411



Internal ID21294677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68515998..68748292hg38UCSC Ensembl
Innerchr4:69381716..69614010hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38232295
hg19232295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv891n145
Supporting Variantsnssv14093437, nssv14090590, nssv14092102, nssv14107563, nssv14107378, nssv14094925, nssv14093529, nssv14094851
Samplessample306, sample382, sample395, sample290, sample79, sample47, sample210, sample168
Known GenesUGT2B15, UGT2B17
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111411
Frequency
Sample Size467
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer