A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728479



Internal ID152145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31290543..31290650hg38UCSC Ensembl
chr22:31686529..31686636hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146483
Supporting Variants
Samples
Known GenesPIK3IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728479
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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