A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2233092



Internal ID17814842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:25752020..25886973hg38UCSC Ensembl
Innerchr20:25732656..25867609hg19UCSC Ensembl
Innerchr20:25680656..25815609hg18UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg38134954
hg19134954
hg18134954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979422
Supporting Variants
SamplesHGDP00927
Known GenesFAM182B
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)nssv2233092
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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