A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578595



Internal ID21527066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63048527..63053333hg38UCSC Ensembl
chr8:63961086..63965892hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg384807
hg194807
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17158860
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578595
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