A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17090458



Internal ID21469733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39984753..39984753hg38UCSC Ensembl
chr13:40558890..40558890hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5654750
Supporting Variants
SamplesHG03125
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17090458
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