A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2246012



Internal ID17819752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:25361332..25363660hg38UCSC Ensembl
Innerchr21:26733646..26735974hg19UCSC Ensembl
Innerchr21:25655517..25657845hg18UCSC Ensembl
Cytoband21q21.2
Allele length
AssemblyAllele length
hg382329
hg192329
hg182329
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964489
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)nssv2246012
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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