A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851262



Internal ID22034905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45945430..45945430hg38UCSC Ensembl
chr2:46172569..46172569hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6251816
Supporting Variants
Samples
Known GenesPRKCE
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851262
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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