A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406272



Internal ID185612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79630588..79630639hg38UCSC Ensembl
chr8:80542823..80542874hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013227
Samples
Known GenesSTMN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406272
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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