A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2231556



Internal ID17769803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:21165169..21174622hg38UCSC Ensembl
Innerchr20:21145809..21155262hg19UCSC Ensembl
Innerchr20:21093809..21103262hg18UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg389454
hg199454
hg189454
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979416
Supporting Variants
SamplesHGDP00542
Known GenesPLK1S1
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)nssv2231556
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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