A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513591



Internal ID290111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121758394..121758875hg38UCSC Ensembl
chr12:122196300..122196781hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685026
Samples
Known GenesTMEM120B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513591
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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