A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545930



Internal ID319930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17701998..17701998hg38UCSC Ensembl
chr20:17682643..17682643hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731321
Samples
Known GenesBANF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545930
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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