A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685374



Internal ID109040
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 StatusS
Merged Variantsnsv5509876
Supporting Variants
Samples
Known GenesTMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685374
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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