A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054479



Internal ID104154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18454368..18454403hg38UCSC Ensembl
chr12:18607302..18607337hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg386010
hg196010
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560714
Supporting Variants
Samples
Known GenesPIK3C2G
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054479
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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