A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16958749



Internal ID39811
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 StatusS
Merged Variantsnsv5402005
Supporting Variants
Samples
Known GenesRAPGEF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16958749
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001717


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