A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421050



Internal ID200139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29110280..29110331hg38UCSC Ensembl
chr22:29506268..29506319hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728344
Samples
Known GenesKREMEN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421050
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