A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417036



Internal ID196243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36354410..36354452hg38UCSC Ensembl
chr13:36928547..36928589hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686896
Samples
Known GenesSPG20, SPG20OS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417036
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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