A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964473



Internal ID18253025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10443917..10453524hg38UCSC Ensembl
Innerchr21:11058933..11068540hg19UCSC Ensembl
Innerchr21:10080804..10090411hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg389608
hg199608
hg189608
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2241746, nssv2241753, nssv2241752, nssv2241751, nssv2241755, nssv2241749, nssv2241747, nssv2241754, nssv2241748, nssv2241750
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964473
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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