A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417474



Internal ID196670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:85681719..85681719hg38UCSC Ensembl
chr15:86224950..86224950hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17702280
Samples
Known GenesAKAP13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417474
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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