A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2237355



Internal ID17799981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:43650198..43654189hg38UCSC Ensembl
Innerchr20:42278838..42282829hg19UCSC Ensembl
Innerchr20:41712252..41716243hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg383992
hg193992
hg183992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965876
Supporting Variants
SamplesHGDP00778
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)nssv2237355
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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