A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243310



Internal ID22047920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157300398..157300398hg38UCSC Ensembl
chr2:158156910..158156910hg19UCSC Ensembl
Cytoband2q24.1
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 Variantsnssv17852581
Samples
Known GenesGALNT5
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243310
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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