A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728472



Internal ID152138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31203226..31203277hg38UCSC Ensembl
chr22:31599212..31599263hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422007
Supporting Variants
Samples
Known GenesRNF185
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728472
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002029


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