A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539159



Internal ID314141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77571152..77571187hg38UCSC Ensembl
chr13:78145287..78145322hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17691424
Samples
Known GenesSCEL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539159
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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