A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17074353



Internal ID21475346
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 StatusS
Merged Variantsnsv5651927
Supporting Variants
SamplesHG03371
Known GenesKCNQ1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17074353
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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