A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253233



Internal ID22057843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200391458..200391458hg38UCSC Ensembl
chr2:201256181..201256181hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17853406
Samples
Known GenesSPATS2L
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253233
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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