A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543121



Internal ID22412185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:121178161..121178161hg38UCSC Ensembl
chr11:121048870..121048870hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381007
hg191007
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416016
SamplesHG00514
Known GenesTECTA
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3543121
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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