A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851243



Internal ID22034886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:18026470..18026470hg38UCSC Ensembl
chr21:19398787..19398787hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6251682
Supporting Variants
Samples
Known GenesCHODL
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851243
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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