A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17086847



Internal ID21443712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:47028781..47028781hg38UCSC Ensembl
chr13:47602916..47602916hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5647208
Supporting Variants
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17086847
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