A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16280730



Internal ID20489948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47850283..47850283hg38UCSC Ensembl
chr18:45376654..45376654hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4751338
Supporting Variants
Samples
Known GenesSMAD2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16280730
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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