A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423062



Internal ID202089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78697450..78697450hg38UCSC Ensembl
chr13:79271585..79271585hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693278
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423062
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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