A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398003



Internal ID177402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:118853561..118853561hg38UCSC Ensembl
chr4:119774716..119774716hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16954105
Samples
Known GenesSYNPO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398003
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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