A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966172



Internal ID44763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67285044..67305731hg38UCSC Ensembl
chr5:66580872..66601559hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3820688
hg1920688
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460943
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966172
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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