A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6047243



Internal ID21956476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17473992..17474204hg38UCSC Ensembl
chr20:17454637..17454849hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17630832
Samples
Known GenesPCSK2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6047243
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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