A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14085347



Internal ID21272717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67339394..67340951hg38UCSC Ensembl
Innerchr8:68251629..68253186hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg381558
hg191558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3114429
Supporting Variants
Samplessample181
Known GenesARFGEF1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14085347
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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