A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4751487



Internal ID20527347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:18675732..18675732hg38UCSC Ensembl
chr20:18656376..18656376hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16281276
Samples
Known GenesDTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4751487
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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