A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6052988



Internal ID21962222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113236379..113236379hg38UCSC Ensembl
chr2:113993956..113993956hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17524782
Samples
Known GenesPAX8, PAX8-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6052988
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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