A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757739



Internal ID20533599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80147004..80147004hg38UCSC Ensembl
chr17:78120803..78120803hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16275849
Samples
Known GenesEIF4A3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757739
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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