A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429702



Internal ID208541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124630044..124630095hg38UCSC Ensembl
chr11:124499940..124499991hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053708
Samples
Known GenesTBRG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429702
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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