A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17691425



Internal ID115091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77597135..77598053hg38UCSC Ensembl
chr13:78171270..78172188hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38919
hg19919
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499886
Supporting Variants
Samples
Known GenesSCEL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17691425
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.011864


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