A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5618241



Internal ID21566546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179962014..179962014hg38UCSC Ensembl
chr3:179679802..179679802hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17133541
SamplesHG00731
Known GenesPEX5L
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5618241
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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