A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5491597



Internal ID268830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109959589..110304026hg38UCSC Ensembl
chr9:112721869..113066306hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38344438
hg19344438
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17026764
Samples
Known GenesAKAP2, C9orf152, PALM2-AKAP2, TXN, TXNDC8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5491597
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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