A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244952



Internal ID22376008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:63413065..63437600hg38UCSC Ensembl
Outerchr11:63180537..63205072hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3816162
hg1916162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253972, nssv14253971, nssv14253970
SamplesNA19238, HG00731, HG00513
Known GenesMIR3680-1, MIR3680-2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244952
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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