A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754817



Internal ID20530677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43911512..43911512hg38UCSC Ensembl
chr1:44377184..44377184hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16271963
Samples
Known GenesST3GAL3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754817
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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