A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4733451



Internal ID20509381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30748996..30749055hg38UCSC Ensembl
chr16:30760317..30760376hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16264350
Samples
Known GenesPHKG2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4733451
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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