A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685700



Internal ID109366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132650628..132851966hg38UCSC Ensembl
chr12:133227214..133428552hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38201339
hg19201339
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500418
Supporting Variants
Samples
Known GenesANKLE2, CHFR, GOLGA3, PGAM5, POLE, PXMP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685700
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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