A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5568742



Internal ID21517092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:18084798..18086329hg38UCSC Ensembl
chr5:18084907..18086438hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381532
hg191532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17125705
SamplesHG00171
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5568742
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