A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5564852



Internal ID21513160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1840399..1840494hg38UCSC Ensembl
chr8:1788565..1788660hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17158730
SamplesHG02818
Known GenesARHGEF10
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5564852
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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