A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6095253



Internal ID22004486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80678047..80678047hg38UCSC Ensembl
chr14:81144391..81144391hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17604121
Samples
Known GenesCEP128
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6095253
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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