A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952286



Internal ID22727603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181392123..181392123hg38UCSC Ensembl
chr3:181109911..181109911hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17421302
Samples
Known GenesSOX2-OT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952286
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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