A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518739



Internal ID295109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65479977..65480767hg38UCSC Ensembl
chr17:63476095..63476885hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38791
hg19791
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715457
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518739
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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