A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548687



Internal ID322415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76448241..76448241hg38UCSC Ensembl
chr17:74444323..74444323hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714726
Samples
Known GenesUBE2O
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548687
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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