A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4764714



Internal ID20540574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181392122..181392122hg38UCSC Ensembl
chr3:181109910..181109910hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16288859
Samples
Known GenesSOX2-OT
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4764714
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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