A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482517



Internal ID259972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77570918..77571043hg38UCSC Ensembl
chr9:80185834..80185959hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025972
Samples
Known GenesGNA14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482517
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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