A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227043



Internal ID22369655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124208804..124224109hg38UCSC Ensembl
chr11:124079511..124094813hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3815306
hg1915303
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14361474
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227043
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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