A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946532



Internal ID18246696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182384061..182385635hg38UCSC Ensembl
Innerchr1:182353196..182354770hg19UCSC Ensembl
Innerchr1:180619819..180621393hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381575
hg191575
hg181575
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1810766, nssv1810758, nssv1810764, nssv1810759, nssv1810763, nssv1810765, nssv1810760, nssv1810762, nssv1810767, nssv1810761
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGLUL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946532
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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