A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496053



Internal ID273142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129183006..129387887hg38UCSC Ensembl
chr12:129667551..129872432hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38204882
hg19204882
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685378
Samples
Known GenesTMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496053
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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