A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987030



Internal ID21896373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18451469..18452458hg38UCSC Ensembl
chr2:18632735..18633724hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38990
hg19990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17533628
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987030
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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