A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429209



Internal ID208060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46899954..46900005hg38UCSC Ensembl
chr19:47403211..47403262hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723716
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429209
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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