A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17691424



Internal ID115090
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 StatusS
Merged Variantsnsv5539159
Supporting Variants
Samples
Known GenesSCEL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17691424
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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