A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443238



Internal ID221639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159590111..159598773hg38UCSC Ensembl
chr2:160446622..160455284hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg388663
hg198663
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921348
Samples
Known GenesBAZ2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443238
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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