A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5569478



Internal ID21517836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134513831..134513964hg38UCSC Ensembl
chr5:133849522..133849655hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17130574
SamplesNA20847
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5569478
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