A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5990708



Internal ID21900051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99258931..99379564hg38UCSC Ensembl
chr2:99875394..99996027hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38120634
hg19120634
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519007
Samples
Known GenesEIF5B, LYG1, TXNDC9
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5990708
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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