A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2240397



Internal ID17418985
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 StatusS
Merged Variantsnsv964411
Supporting Variants
SamplesHGDP00542
Known GenesAURKA, FAM210B
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)nssv2240397
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer