A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5656650



Internal ID21604955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80729058..80729058hg38UCSC Ensembl
chr14:81195402..81195402hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17099037
SamplesHG00864
Known GenesCEP128
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5656650
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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