A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728360



Internal ID152026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29387564..29394000hg38UCSC Ensembl
chr22:29783553..29789989hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg386437
hg196437
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552569
Supporting Variants
Samples
Known GenesAP1B1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728360
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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