A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5638716



Internal ID21587021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48175373..48175373hg38UCSC Ensembl
chr8:49087933..49087933hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38691
hg19691
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17148293
SamplesHG00171
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5638716
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