A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5536130



Internal ID311675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:18581313..18581316hg38UCSC Ensembl
chr20:18561957..18561960hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731375
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5536130
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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