A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748364



Internal ID20524389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80018184..80027043hg38UCSC Ensembl
chr17:77991983..78000842hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg388860
hg198860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16261379
Samples
Known GenesTBC1D16
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748364
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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