A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4764488



Internal ID20540348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53594000..53594000hg38UCSC Ensembl
chr8:54506560..54506560hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38938
hg19938
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16264256
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4764488
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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