A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727566



Internal ID151232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18174778..18174816hg38UCSC Ensembl
chr22:18657545..18657583hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539822
Supporting Variants
Samples
Known GenesUSP18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727566
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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