A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17726128



Internal ID149794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:17516262..17516393hg38UCSC Ensembl
chr21:18888580..18888711hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532209
Supporting Variants
Samples
Known GenesCXADR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17726128
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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