A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417588



Internal ID196779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41750033..41750050hg38UCSC Ensembl
chr21:43170193..43170210hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727013
Samples
Known GenesRIPK4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417588
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