A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2239709



Internal ID17474972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:56369905..56370512hg38UCSC Ensembl
Innerchr20:54944961..54945568hg19UCSC Ensembl
Innerchr20:54378368..54378975hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38608
hg19608
hg18608
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979444
Supporting Variants
SamplesHGDP00927
Known GenesAURKA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2239709
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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