A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2514820



Internal ID17810983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:98782271..98797281hg38UCSC Ensembl
Innerchr8:99794499..99809509hg19UCSC Ensembl
Innerchr8:99863675..99878685hg18UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3815011
hg1915011
hg1815011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981968
Supporting Variants
SamplesHGDP00927
Known GenesSTK3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2514820
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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