A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4743285



Internal ID20519273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28322899..28322968hg38UCSC Ensembl
chr16:28334220..28334289hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16285484
Samples
Known GenesSBK1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4743285
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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