A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480868



Internal ID258366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:83773662..83837097hg38UCSC Ensembl
chr9:86388577..86452012hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg3863436
hg1963436
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025411
Samples
Known GenesGKAP1, KIF27
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480868
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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