A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423948



Internal ID202954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:52212355..52212406hg38UCSC Ensembl
chr16:52246267..52246318hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707430
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423948
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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