A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5596008



Internal ID21544615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48731596..48731659hg38UCSC Ensembl
chr13:49305732..49305795hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17081288
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5596008
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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