A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2240146



Internal ID17798089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57327309..57328817hg38UCSC Ensembl
Innerchr20:55902365..55903873hg19UCSC Ensembl
Innerchr20:55335772..55337280hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg381509
hg191509
hg181509
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965891
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)nssv2240146
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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