A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520233



Internal ID296567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17261907..17282405hg38UCSC Ensembl
chr17:17165221..17185719hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3820499
hg1920499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711843
Samples
Known GenesCOPS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520233
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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