A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2491502



Internal ID17814659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:436685..438531hg38UCSC Ensembl
Innerchr8:386685..388531hg19UCSC Ensembl
Innerchr8:376685..378531hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg381847
hg191847
hg181847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv971271
Supporting Variants
SamplesHGDP00927
Known GenesFBXO25
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2491502
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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