A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724843



Internal ID148509
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 StatusS
Merged Variantsnsv5524730
Supporting Variants
Samples
Known GenesAKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724843
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001407


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