A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17143418



Internal ID21505011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22878210..22878210hg38UCSC Ensembl
chr8:22735723..22735723hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5642926
Supporting Variants
SamplesNA19650
Known GenesPEBP4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17143418
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