A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2276123



Internal ID17822070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:28437406..28448062hg38UCSC Ensembl
Innerchr3:28478897..28489553hg19UCSC Ensembl
Innerchr3:28453901..28464557hg18UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3810657
hg1910657
hg1810657
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979813
Supporting Variants
SamplesHGDP00927
Known GenesZCWPW2
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)nssv2276123
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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