A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17850729



Internal ID22034372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32757132..32757132hg38UCSC Ensembl
chr21:34129443..34129443hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6251852
Supporting Variants
Samples
Known GenesPAXBP1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17850729
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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