A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5567988



Internal ID21516331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52122873..52122933hg38UCSC Ensembl
chr8:53035433..53035493hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17156000
SamplesHG03683
Known GenesST18
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5567988
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