A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2238831



Internal ID17517856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:49954044..49965347hg38UCSC Ensembl
Innerchr20:48570581..48581884hg19UCSC Ensembl
Innerchr20:48003988..48015291hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3811304
hg1911304
hg1811304
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965883
Supporting Variants
SamplesHGDP01284
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)nssv2238831
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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