A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5616292



Internal ID21564597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222474050..222474050hg38UCSC Ensembl
chr1:222647392..222647392hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062809
SamplesHG00096
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5616292
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