A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394863



Internal ID174289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76376762..76376813hg38UCSC Ensembl
chr11:76087806..76087857hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17048535
Samples
Known GenesPRKRIR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394863
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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