A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5652019



Internal ID21600324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:116994892..116994892hg38UCSC Ensembl
chr11:116865608..116865608hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg386089
hg196089
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17072845
SamplesHG00732
Known GenesSIK3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5652019
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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