A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423551



Internal ID202567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:43506111..43506162hg38UCSC Ensembl
chr15:43798309..43798360hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17702013
Samples
Known GenesRNU6-28P, TP53BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423551
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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