A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555419



Internal ID328575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:27106938..27106977hg38UCSC Ensembl
chr11:27128485..27128524hg19UCSC Ensembl
Cytoband11p14.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17045944
Samples
Known GenesBBOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555419
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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