A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5581736



Internal ID21530240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235525497..235525696hg38UCSC Ensembl
chr2:236434141..236434340hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110253
SamplesHG00513
Known GenesAGAP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5581736
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