A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966281



Internal ID18601511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69589490..69590223hg38UCSC Ensembl
Innerchr4:70455208..70455941hg19UCSC Ensembl
Innerchr4:70489797..70490530hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38734
hg19734
hg18734
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2323721, nssv2323717, nssv2323723, nssv2323724, nssv2323720, nssv2323718, nssv2323719, nssv2323722, nssv2323725, nssv2323726
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUGT2A1, UGT2A2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966281
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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