A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447375



Internal ID225680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232575934..232623447hg38UCSC Ensembl
chr2:233440644..233488157hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3847514
hg1947514
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925810
Samples
Known GenesEFHD1, EIF4E2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447375
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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