A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2289498



Internal ID17818716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:90153136..90185740hg38UCSC Ensembl
Innerchr3:90202286..90234890hg19UCSC Ensembl
Innerchr3:90284976..90317580hg18UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg3832605
hg1932605
hg1832605
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv965184
Supporting Variants
SamplesHGDP00927
Known Genes
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)nssv2289498
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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