A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246416



Internal ID22376404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:57982780..58014919hg38UCSC Ensembl
Outerchr11:57750252..57782391hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3822425
hg1922425
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255172
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246416
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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