A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540938



Internal ID315623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31456469..31456811hg38UCSC Ensembl
chr22:31852455..31852797hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728490
Samples
Known GenesEIF4ENIF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540938
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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