A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5566168



Internal ID21514489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143526106..143526428hg38UCSC Ensembl
chr2:144283675..144283997hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108603
SamplesNA19238
Known GenesARHGAP15
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5566168
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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