A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253236



Internal ID22057846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200712282..200712282hg38UCSC Ensembl
chr2:201577005..201577005hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17851069
Samples
Known GenesAOX2P
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253236
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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