A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728344



Internal ID152010
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 StatusS
Merged Variantsnsv5421050
Supporting Variants
Samples
Known GenesKREMEN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728344
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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