A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728424



Internal ID152090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30362158..30362208hg38UCSC Ensembl
chr22:30758147..30758197hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543524
Supporting Variants
Samples
Known GenesCCDC157
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728424
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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