A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4743351



Internal ID20519339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70519110..70519432hg38UCSC Ensembl
chr16:70553013..70553335hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16278771
Samples
Known GenesCOG4
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4743351
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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