A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5596263



Internal ID21544871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40506558..40508954hg38UCSC Ensembl
chr9:42848005..42850402hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg382397
hg192398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17161785
SamplesHG01596
Known GenesLOC286297
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5596263
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