A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945357



Internal ID18592208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228686058..228688781hg38UCSC Ensembl
Innerchr1:228821805..228824528hg19UCSC Ensembl
Innerchr1:226888428..226891151hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg382724
hg192724
hg182724
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1822762, nssv1822759, nssv1822760, nssv1822755, nssv1822757, nssv1822758, nssv1822756, nssv1822761, nssv1822753, nssv1822754
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRHOU
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945357
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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