A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474796



Internal ID252446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:68388985..68389160hg38UCSC Ensembl
chr10:70148742..70148917hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17037424
Samples
Known GenesRUFY2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474796
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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