A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558611



Internal ID331670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112213894..112213945hg38UCSC Ensembl
chr11:112084617..112084668hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg381566
hg191566
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17050270
Samples
Known GenesBCO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558611
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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