A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253213



Internal ID22057823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197898738..197898738hg38UCSC Ensembl
chr2:198763462..198763462hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17853389
Samples
Known GenesPLCL1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253213
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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