A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964028



Internal ID18252580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8417230..8428433hg38UCSC Ensembl
Innerchr4:8418957..8430160hg19UCSC Ensembl
Innerchr4:8469857..8481060hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3811204
hg1911204
hg1811204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2311857, nssv2311851, nssv2311858, nssv2311856, nssv2311853, nssv2311850, nssv2311855, nssv2311849, nssv2311854, nssv2311852
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesACOX3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964028
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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