A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110253



Internal ID21413019
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 StatusS
Merged Variantsnsv5581736
Supporting Variants
SamplesHG00513
Known GenesAGAP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110253
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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