A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220430



Internal ID22365126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:5250031..5254480hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg384450
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14301227, nssv14301228
SamplesHG00512, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220430
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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