A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989599



Internal ID21898942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60473000..60473051hg38UCSC Ensembl
chr2:60700135..60700186hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519620
Samples
Known GenesBCL11A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989599
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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