A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2239059



Internal ID17753904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:50476083..50481794hg38UCSC Ensembl
Innerchr20:49092620..49098331hg19UCSC Ensembl
Innerchr20:48526027..48531738hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg385712
hg195712
hg185712
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964408
Supporting Variants
SamplesHGDP00521
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)nssv2239059
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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