A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432515



Internal ID211254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30472361..30472398hg38UCSC Ensembl
chr16:30483682..30483719hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707691
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432515
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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