A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847255



Internal ID22030898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56454508..56454508hg38UCSC Ensembl
chr16:56488420..56488420hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6250307
Supporting Variants
Samples
Known GenesOGFOD1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847255
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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