A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2229720



Internal ID17727898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:18087316..18091673hg38UCSC Ensembl
Innerchr20:18067960..18072317hg19UCSC Ensembl
Innerchr20:18015960..18020317hg18UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg384358
hg194358
hg184358
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965859
Supporting Variants
SamplesHGDP00456
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)nssv2229720
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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