A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402005



Internal ID181378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:159310997..159311048hg38UCSC Ensembl
chr4:160232149..160232200hg19UCSC Ensembl
Cytoband4q32.1
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 Variantsnssv16958749
Samples
Known GenesRAPGEF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402005
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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