A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535745



Internal ID311340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116629393..116629402hg38UCSC Ensembl
chr12:117067198..117067207hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684704
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535745
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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