A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518076



Internal ID294472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19884505..19894076hg38UCSC Ensembl
chr20:19865149..19874720hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg389572
hg199572
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731436
Samples
Known GenesRIN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518076
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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