A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527373



Internal ID303474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57504080..57504424hg38UCSC Ensembl
chr20:56079136..56079480hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733298
Samples
Known GenesCTCFL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527373
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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