A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530503



Internal ID306485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:11689135..11695341hg38UCSC Ensembl
chr20:11669783..11675989hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg386207
hg196207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730879
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530503
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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