A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482340



Internal ID259797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70102755..70102833hg38UCSC Ensembl
chr10:71862511..71862589hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17035187
Samples
Known GenesH2AFY2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482340
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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