A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2318384



Internal ID17849284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:47705742..47707541hg38UCSC Ensembl
Innerchr4:47707759..47709558hg19UCSC Ensembl
Innerchr4:47402516..47404315hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg381800
hg191800
hg181800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967742
Supporting Variants
SamplesHGDP01029
Known GenesCORIN
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)nssv2318384
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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