A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540980



Internal ID315656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46586154..46674696hg38UCSC Ensembl
chr21:48006067..48094608hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3888543
hg1988542
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727326
Samples
Known GenesPRMT2, S100B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540980
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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