A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495159



Internal ID272279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128601576..128601758hg38UCSC Ensembl
chr12:129086121..129086303hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685326
Samples
Known GenesTMEM132C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495159
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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