A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447533



Internal ID225834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240487835..240574804hg38UCSC Ensembl
chr2:241427252..241514221hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3886970
hg1986970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926494
Samples
Known GenesANKMY1, DUSP28, RNPEPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447533
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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