A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543414



Internal ID317666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46560971..46631360hg38UCSC Ensembl
chr21:47980884..48051272hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3870390
hg1970389
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727323
Samples
Known GenesDIP2A, S100B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543414
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer