A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5993485



Internal ID21902828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48057567..48062515hg38UCSC Ensembl
chr3:48099057..48104005hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384949
hg194949
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17549832
Samples
Known GenesMAP4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5993485
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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