A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985383



Internal ID21894726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113236281..113236365hg38UCSC Ensembl
chr2:113993858..113993942hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17517931
Samples
Known GenesPAX8, PAX8-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985383
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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