A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6546652



Internal ID20919862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45273894..45285684hg38UCSC Ensembl
chr21:46693809..46705599hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3811791
hg1911791
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204164
Samples
Known GenesPOFUT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6546652
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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