A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17042689



Internal ID96165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:26966000..27220000hg38UCSC Ensembl
chr11:26987547..27241547hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38254001
hg19254001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511328
Supporting Variants
Samples
Known GenesBBOX1, FIBIN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17042689
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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