A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499138



Internal ID276117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132706616..132827413hg38UCSC Ensembl
chr12:133283202..133403999hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38120798
hg19120798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv117n206
Supporting Variantsnssv17685710
Samples
Known GenesANKLE2, GOLGA3, PGAM5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499138
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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