A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5598472



Internal ID21547099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100040050..100040752hg38UCSC Ensembl
chr12:100433828..100434530hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077022
SamplesHG01596
Known GenesUHRF1BP1L
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5598472
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