A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540017



Internal ID314861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32765600..32765623hg38UCSC Ensembl
chr20:31353406..31353429hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731983
Samples
Known GenesDNMT3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540017
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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