A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5618395



Internal ID21566700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8063970..8063970hg38UCSC Ensembl
chr2:8204100..8204100hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114717
SamplesHG00513
Known GenesLINC00299
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5618395
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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