A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989339



Internal ID21898682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31007512..31011025hg38UCSC Ensembl
chr2:31230378..31233891hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg383514
hg193514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17527832
Samples
Known GenesGALNT14
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989339
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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