A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048051



Internal ID21957284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46539168..46663032hg38UCSC Ensembl
chr21:47959081..48082944hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38123865
hg19123864
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17639832
Samples
Known GenesDIP2A, PRMT2, S100B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048051
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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