A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5610114



Internal ID21558419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99694171..99694171hg38UCSC Ensembl
chr2:100310633..100310633hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg386081
hg196081
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17115136
SamplesHG00096
Known GenesAFF3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5610114
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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