A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218485



Internal ID22363808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:113948515..113968344hg38UCSC Ensembl
chr8:114960744..114980573hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3819830
hg1919830
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14343356
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218485
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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