A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964411



Internal ID18252963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:56366915..56369405hg38UCSC Ensembl
Innerchr20:54941971..54944461hg19UCSC Ensembl
Innerchr20:54375378..54377868hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg382491
hg192491
hg182491
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2240396, nssv2240397, nssv2238820, nssv2240398, nssv2240391, nssv2240392, nssv2240395, nssv2240393, nssv2240394, nssv2238819
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAURKA, FAM210B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964411
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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