A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984147



Internal ID19228622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:28446706..28446791hg38UCSC Ensembl
Outerchr8:28304223..28304308hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125943
Supporting Variants
SamplesKWS2
Known GenesFBXO16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984147
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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