A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17726894



Internal ID150560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39479232..39479464hg38UCSC Ensembl
chr21:40851158..40851390hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548695
Supporting Variants
Samples
Known GenesSH3BGR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17726894
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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