A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2234985



Internal ID17802589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:35878469..35882284hg38UCSC Ensembl
Innerchr20:34466391..34470206hg19UCSC Ensembl
Innerchr20:33929805..33933620hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg383816
hg193816
hg183816
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979431
Supporting Variants
SamplesHGDP00778
Known GenesPHF20
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)nssv2234985
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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