A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17145803



Internal ID21404741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22728547..22728547hg38UCSC Ensembl
chr8:22586060..22586060hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5639327
Supporting Variants
SamplesHG00512
Known GenesPEBP4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17145803
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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