A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753879



Internal ID20529739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69230781..69230781hg38UCSC Ensembl
chr8:70143016..70143016hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16271346
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753879
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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