A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246843



Internal ID22376544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:101925550..101947776hg38UCSC Ensembl
Outerchr11:101796281..101818507hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38716
hg19716
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254860, nssv14254859, nssv14254858
SamplesNA19238, HG00732, HG00513
Known GenesKIAA1377
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246843
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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