A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4758993



Internal ID20534853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:129291255..129291255hg38UCSC Ensembl
chr4:130212410..130212410hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16260890
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4758993
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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