A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125943



Internal ID19250622
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 StatusM
Merged Variants
Supporting Variantsnssv3984147
SamplesKWS2
Known GenesFBXO16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125943
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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