A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16284403



Internal ID20493621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117152013..117152013hg38UCSC Ensembl
chr12:117589818..117589818hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38472
hg19472
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4758178
Supporting Variants
Samples
Known GenesFBXO21
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16284403
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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