A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2230541



Internal ID17817028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:10346996..10352994hg38UCSC Ensembl
Innerchr20:10327644..10333642hg19UCSC Ensembl
Innerchr20:10275644..10281642hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg385999
hg195999
hg185999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979413
Supporting Variants
SamplesHGDP00927
Known Genes
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)nssv2230541
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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