A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4768192



Internal ID20544052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26209955..26209955hg38UCSC Ensembl
chr22:26605921..26605921hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16283446
Samples
Known GenesSEZ6L
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4768192
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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