A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413547



Internal ID192837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117522711..117522762hg38UCSC Ensembl
chr8:118534950..118535001hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735855
Samples
Known GenesMED30
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413547
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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