A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4749052



Internal ID20525081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54665307..54666616hg38UCSC Ensembl
chr16:54699219..54700528hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg381310
hg191310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16283589
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4749052
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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