A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4765483



Internal ID20541343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102342515..102342515hg38UCSC Ensembl
chr13:102994865..102994865hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16259757
Samples
Known GenesFGF14, FGF14-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4765483
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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