A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17527452



Internal ID21851809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113236039..113236039hg38UCSC Ensembl
chr2:113993616..113993616hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6047300
Supporting Variants
Samples
Known GenesPAX8, PAX8-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17527452
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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