A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547472



Internal ID321316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37866754..37882168hg38UCSC Ensembl
chr22:38262761..38278175hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3815415
hg1915415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728885
Samples
Known GenesEIF3L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547472
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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