A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406117



Internal ID22463987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46382952..46383999hg38UCSC Ensembl
chr21:47802867..47803914hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381048
hg191048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5951545
Supporting Variants
Samples
Known GenesPCNT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406117
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.41


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