A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509876



Internal ID286515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129095000..129105728hg38UCSC Ensembl
chr12:129579545..129590273hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3810729
hg1910729
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685374
Samples
Known GenesTMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509876
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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