A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2490019



Internal ID17738741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:407930..411010hg38UCSC Ensembl
Innerchr8:357930..361010hg19UCSC Ensembl
Innerchr8:347930..351010hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg383081
hg193081
hg183081
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv971615
Supporting Variants
SamplesHGDP00456
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)nssv2490019
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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