A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5990147



Internal ID21899490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8860261..8860333hg38UCSC Ensembl
chr2:9000391..9000463hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519005
Samples
Known GenesMBOAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5990147
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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