A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17843363



Internal ID22027006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18700536..18700536hg38UCSC Ensembl
chr12:18853470..18853470hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6240723
Supporting Variants
Samples
Known GenesPLCZ1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17843363
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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