A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5666043



Internal ID21614348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49568410..49568410hg38UCSC Ensembl
chr20:48184947..48184947hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17117327
SamplesHG00864
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5666043
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