A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253404



Internal ID22058014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219091549..219091549hg38UCSC Ensembl
chr2:219956271..219956271hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17854036
Samples
Known GenesNHEJ1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253404
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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