A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4762894



Internal ID20538754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122237729..122237729hg38UCSC Ensembl
chr12:122722276..122722276hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16295641
Samples
Known GenesVPS33A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4762894
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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