A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407180



Internal ID186515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232827214..232827265hg38UCSC Ensembl
chr2:233691924..233691975hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925093
Samples
Known GenesGIGYF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407180
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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