A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18008748



Internal ID20575789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48398050..48398770hg38UCSC Ensembl
chr13:48972186..48972906hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38721
hg19721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6490353
Supporting Variants
Samples
Known GenesRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18008748
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00133


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer