A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524730



Internal ID300924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57091339..57091389hg38UCSC Ensembl
chr17:55168700..55168750hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724843
Samples
Known GenesAKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524730
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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