A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729161



Internal ID152827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41663890..41663940hg38UCSC Ensembl
chr22:42059894..42059944hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418159
Supporting Variants
Samples
Known GenesXRCC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729161
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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