A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6100942



Internal ID22010175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37479612..37479612hg38UCSC Ensembl
chr21:38851914..38851914hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17647203
Samples
Known GenesDYRK1A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6100942
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer