A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728438



Internal ID152104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30703641..30710752hg38UCSC Ensembl
chr22:31099628..31106739hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg387112
hg197112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5534267
Supporting Variants
Samples
Known GenesOSBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728438
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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