A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5651927



Internal ID21600232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2700732..2700732hg38UCSC Ensembl
chr11:2721962..2721962hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17074353
SamplesHG03371
Known GenesKCNQ1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5651927
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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