A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5583466



Internal ID21531992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86914785..86914846hg38UCSC Ensembl
chr2:87141908..87141969hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114938
SamplesHG00512
Known GenesRGPD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5583466
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