A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728430



Internal ID152096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30597423..30597423hg38UCSC Ensembl
chr22:30993410..30993410hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5551140
Supporting Variants
Samples
Known GenesPES1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728430
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.999061


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