A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4755466



Internal ID20531326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113236059..113236059hg38UCSC Ensembl
chr2:113993636..113993636hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16283807
Samples
Known GenesPAX8, PAX8-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4755466
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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