A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612748



Internal ID21561053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86914681..86914681hg38UCSC Ensembl
chr2:87141804..87141804hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114937
SamplesHG00731
Known GenesRGPD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612748
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