A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4766379



Internal ID20542239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109209921..109209921hg38UCSC Ensembl
chr12:109647726..109647726hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16280980
Samples
Known GenesACACB
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4766379
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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