A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16295641



Internal ID20504859
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 StatusS
Merged Variantsnsv4762894
Supporting Variants
Samples
Known GenesVPS33A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16295641
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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