A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5571438



Internal ID21519816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221424954..221425158hg38UCSC Ensembl
chr2:222289674..222289878hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110127
SamplesNA19239
Known GenesEPHA4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5571438
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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