A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413843



Internal ID193132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119055550..119055601hg38UCSC Ensembl
chr4:119976705..119976756hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16954130
Samples
Known GenesSYNPO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413843
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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