A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548140



Internal ID321921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:31587837..31590715hg38UCSC Ensembl
chr21:32960150..32963028hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg382879
hg192879
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734656
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548140
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