A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754980



Internal ID20530840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223179471..223179471hg38UCSC Ensembl
chr1:223352813..223352813hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16285337
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754980
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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