A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748059



Internal ID20524083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46687279..46687342hg38UCSC Ensembl
chr22:47083176..47083239hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16263165
Samples
Known GenesCERK
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748059
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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