A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6100947



Internal ID22010180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37451595..37451595hg38UCSC Ensembl
chr21:38823897..38823897hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17645353
Samples
Known GenesDYRK1A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6100947
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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