A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406185



Internal ID22464055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45267017..45267075hg38UCSC Ensembl
chr21:46686932..46686990hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5951981
Supporting Variants
Samples
Known GenesPOFUT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406185
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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