A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985478



Internal ID21894821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:99792806..99802392hg38UCSC Ensembl
chr1:100258362..100267948hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg389587
hg199587
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17532450
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985478
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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