A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253959



Internal ID22058569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45966448..45966448hg38UCSC Ensembl
chr3:46007940..46007940hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17852128
Samples
Known GenesFYCO1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253959
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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