A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416768



Internal ID195984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118705482..118705533hg38UCSC Ensembl
chr11:118576191..118576242hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053628
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416768
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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