A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5993712



Internal ID21903055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69279688..69279758hg38UCSC Ensembl
chr3:69328839..69328909hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17541854
Samples
Known GenesFRMD4B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5993712
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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