A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5607792



Internal ID21556097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56853189..56853189hg38UCSC Ensembl
chr3:56887217..56887217hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17131526
SamplesNA19238
Known GenesARHGEF3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5607792
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