A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5663393



Internal ID21611698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70326009..70326009hg38UCSC Ensembl
chr14:70792726..70792726hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17099458
SamplesHG03371
Known GenesCOX16, SYNJ2BP-COX16
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5663393
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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