A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16293746



Internal ID20502964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22922450..22922450hg38UCSC Ensembl
chr8:22779963..22779963hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4759648
Supporting Variants
Samples
Known GenesPEBP4
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16293746
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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