A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979515



Internal ID18268031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10414518..10443917hg38UCSC Ensembl
Innerchr21:11068540..11097939hg19UCSC Ensembl
Innerchr21:10090411..10119810hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3829400
hg1929400
hg1829400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2241847, nssv2241850, nssv2241845, nssv2241844, nssv2241849, nssv2241851, nssv2241846, nssv2241852, nssv2241843, nssv2241848
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979515
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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