A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2228896



Internal ID17821094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:10612454..10613836hg38UCSC Ensembl
Innerchr20:10593102..10594484hg19UCSC Ensembl
Innerchr20:10541102..10542484hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg381383
hg191383
hg181383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962556
Supporting Variants
SamplesHGDP00927
Known GenesSLX4IP
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)nssv2228896
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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