A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5656053



Internal ID21604358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37337987..37337987hg38UCSC Ensembl
chr18:34917950..34917950hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17100908
SamplesNA20847
Known GenesCELF4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5656053
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer