A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2226933



Internal ID17816778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:5291499..5292685hg38UCSC Ensembl
Innerchr20:5272145..5273331hg19UCSC Ensembl
Innerchr20:5220145..5221331hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg381187
hg191187
hg181187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965850
Supporting Variants
SamplesHGDP00927
Known Genes
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)nssv2226933
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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