A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548459



Internal ID322209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17740738..17740743hg38UCSC Ensembl
chr20:17721383..17721388hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731322
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548459
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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