A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14102052



Internal ID21277053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:37363554..37369513hg38UCSC Ensembl
Innerchr21:38735856..38741815hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg385960
hg195960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3112321
Supporting Variants
Samplessample245
Known GenesDYRK1A
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14102052
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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