A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501824



Internal ID278714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4596357..4602817hg38UCSC Ensembl
chr12:4705523..4711983hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg386461
hg196461
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052737
Samples
Known GenesDYRK4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501824
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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