A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5536659



Internal ID312104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67653001..67653047hg38UCSC Ensembl
chr12:68046781..68046827hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688789
Samples
Known GenesDYRK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5536659
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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