A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5590923



Internal ID21539494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124911906..124912133hg38UCSC Ensembl
chr12:125396452..125396679hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077341
SamplesHG00732
Known GenesUBC
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5590923
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