A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17642505



Internal ID21834552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50732047..50750374hg38UCSC Ensembl
chr22:51170475..51188802hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3818328
hg1918328
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6051413
Supporting Variants
Samples
Known GenesACR, SHANK3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17642505
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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