A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4751338



Internal ID20527199
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 StatusM
Merged Variants
Supporting Variantsnssv16280730
Samples
Known GenesSMAD2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4751338
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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