A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541016



Internal ID297293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110414002..110414053hg38UCSC Ensembl
chr12:110851807..110851858hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684422
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541016
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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