A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399284



Internal ID178673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104772567..104772618hg38UCSC Ensembl
chr2:105389025..105389076hg19UCSC Ensembl
Cytoband2q12.1
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 Variantsnssv16916441
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399284
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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