A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546297



Internal ID320260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46282412..46282412hg38UCSC Ensembl
chr11:46303963..46303963hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047331
Samples
Known GenesCREB3L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546297
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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