A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727013



Internal ID150679
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 StatusS
Merged Variantsnsv5417588
Supporting Variants
Samples
Known GenesRIPK4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727013
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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