A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535551



Internal ID311174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42300364..42300467hg38UCSC Ensembl
chr21:43720474..43720577hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727050
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535551
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