A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518980



Internal ID295341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2073193..2077690hg38UCSC Ensembl
chr20:2053839..2058336hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg384498
hg194498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730298
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518980
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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