A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115792



Internal ID21299058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67337720..67341067hg38UCSC Ensembl
Innerchr8:68249955..68253302hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1186n145
Supporting Variantsnssv14087295, nssv14088299, nssv14085208
Samplessample145, sample294, sample402
Known GenesARFGEF1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115792
Frequency
Sample Size467
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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