A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5618295



Internal ID21566600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232905904..232905904hg38UCSC Ensembl
chr2:233770614..233770614hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111749
SamplesHG03065
Known GenesNGEF
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5618295
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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