A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6064450



Internal ID21973683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117129696..117129696hg38UCSC Ensembl
chr8:118141935..118141935hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg382232
hg192232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17582708
Samples
Known GenesSLC30A8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6064450
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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