A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052737



Internal ID103005
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 StatusS
Merged Variantsnsv5501824
Supporting Variants
Samples
Known GenesDYRK4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052737
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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