A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5645343



Internal ID21593648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59547062..59547062hg38UCSC Ensembl
chr18:57214294..57214294hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17101356
SamplesHG01114
Known GenesCCBE1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5645343
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