A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2490102



Internal ID17778369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:425967..433873hg38UCSC Ensembl
Innerchr8:375967..383873hg19UCSC Ensembl
Innerchr8:365967..373873hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg387907
hg197907
hg187907
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv971270
Supporting Variants
SamplesHGDP00665
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)nssv2490102
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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