A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117272



Internal ID21300538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68523623..68748292hg38UCSC Ensembl
Innerchr4:69389341..69614010hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38224670
hg19224670
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv891n145
Supporting Variantsnssv14096607, nssv14093348, nssv14107385
Samplessample48, sample417, sample273
Known GenesUGT2B15, UGT2B17
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117272
Frequency
Sample Size467
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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