A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532209



Internal ID308137
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 StatusM
Merged Variants
Supporting Variantsnssv17726128
Samples
Known GenesCXADR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532209
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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