A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540065



Internal ID314900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54480941..54480991hg38UCSC Ensembl
chr20:53097480..53097530hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733111
Samples
Known GenesDOK5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540065
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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