A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989702



Internal ID21899045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48585249..48596859hg38UCSC Ensembl
chr2:48812388..48823998hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3811611
hg1911611
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17530516
Samples
Known GenesSTON1, STON1-GTF2A1L
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989702
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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