A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146539



Internal ID345744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:5491235..5491290hg38UCSC Ensembl
chr20:5471881..5471936hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730562
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146539
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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