A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5614688



Internal ID21562993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223106991..223106991hg38UCSC Ensembl
chr2:223971709..223971709hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111318
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5614688
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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