A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519767



Internal ID296113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44519196..44519279hg38UCSC Ensembl
chr20:43147837..43147920hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732552
Samples
Known GenesSERINC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519767
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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