A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946564



Internal ID18246728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:197097704..197100708hg38UCSC Ensembl
Innerchr1:197066834..197069838hg19UCSC Ensembl
Innerchr1:195333457..195336461hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383005
hg193005
hg183005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1813748, nssv1813751, nssv1813752, nssv1813755, nssv1813756, nssv1813757, nssv1813749, nssv1813753, nssv1813754, nssv1813750
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesASPM
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946564
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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